Disease on EC 4.98.1.1 - protoporphyrin ferrochelatase
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aconitate hydratase deficiency
Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain.
Adenocarcinoma
Biochemical basis of 5-aminolaevulinic acid-induced protoporphyrin IX accumulation: a study in patients with (pre)malignant lesions of the oesophagus.
Anemia
A possible role of copper in the regulation of heme biosynthesis through ferrochelatase.
Anemia
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.
Anemia
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Anemia
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Anemia
[The measurement of erythrocyte zinc protoporphyrin/heme ratio in various anemias in childhood]
Anemia, Hypochromic
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Anemia, Refractory
Absence of frataxin mutations in refractory anemia with ring sideroblasts (RARS).
Anemia, Sideroblastic
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Anemia, Sideroblastic
Heme synthetase activity in normal human and rat erythroid cells and in sideroblastic anemia.
Anemia, Sideroblastic
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
Anemia, Sideroblastic
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Ataxia
3-Nitropropionic acid increases frataxin expression in human lymphoblasts and in transgenic rat PC12 cells.
Ataxia
A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
Ataxia
A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis.
Ataxia
A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.
Ataxia
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Ataxia
Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.
Ataxia
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
Ataxia
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.
Ataxia
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.
Ataxia
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia.
Ataxia
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
Ataxia
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.
Ataxia
Effects of Fe2+/Fe3+ Binding to Human Frataxin and Its D122Y Variant, as Revealed by Site-Directed Spin Labeling (SDSL) EPR Complemented by Fluorescence and Circular Dichroism Spectroscopies.
Ataxia
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Ataxia
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Ataxia
Frataxin is essential for extramitochondrial Fe S cluster proteins in mammalian tissues.
Ataxia
Friedreich ataxia (FA) associated with diabetes mellitus type 1 and hyperthrophic cardiomyopathy.
Ataxia
Friedreich's ataxia (FA) associated with diabetes mellitus type 1 and hypertrophic cardiomyopathy: analysis of a FA family.
Ataxia
Friedreich's Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
Ataxia
Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.
Ataxia
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
Ataxia
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Ataxia
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Ataxia
Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region.
Ataxia
Iron-Starvation-Induced Mitophagy Mediates Lifespan Extension upon Mitochondrial Stress in C. elegans.
Ataxia
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
Ataxia
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.
Ataxia
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Ataxia
Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
Ataxia
Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
Ataxia
Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.
Ataxia
Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants.
Ataxia
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Ataxia
Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.
Ataxia
Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia.
Ataxia
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Ataxia
Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.
Ataxia
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia.
Ataxia
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Ataxia
Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy.
Ataxia
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
Ataxia
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.
Ataxia
The roles of SbcCD and RNaseE in the transcription of GAA.TTC repeats in Escherichia coli.
Ataxia
The transcriptional regulator CCCTC-binding factor limits oxidative stress in endothelial cells.
Ataxia
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins.
Ataxia
TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia.
Ataxia
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model.
Ataxia
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
Ataxia
[Mitochondrial DNA mutations and three major forms of mitochondrial myopathies: CPEO, MELAS and MERRF]
Ataxia
[Molecular genetic diagnosis of Friedreich's ataxia. Ten years experience based on blood sample analysis].
Breast Neoplasms
Effects of Silencing Heme Biosynthesis Enzymes on 5-Aminolevulinic Acid-mediated Protoporphyrin IX Fluorescence and Photodynamic Therapy.
Breast Neoplasms
Involvement of protoporphyrin IX accumulation in the pathogenesis of isoniazid/rifampicin-induced liver injury: the prevention of curcumin.
Carcinogenesis
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Carcinoma
Alectinib treatment improves photodynamic therapy in cancer cell lines of different origin.
Carcinoma
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
Carcinoma
Silencing of human ferrochelatase causes abundant protoporphyrin-IX accumulation in colon cancer.
Carcinoma, Hepatocellular
Differential interaction of porphyrins used in photoradiation therapy with ferrochelatase.
Carcinoma, Hepatocellular
Heme-biosynthetic enzyme activities and porphyrin accumulation in normal liver and hepatoma cell lines of rat.
Carcinoma, Hepatocellular
Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
Cardiomegaly
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.
Cardiomegaly
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.
Cardiomegaly
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Cardiomegaly
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
Cardiomegaly
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
Cardiomyopathies
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro.
Cardiomyopathies
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats.
Cardiomyopathies
Assembly of the iron-binding protein frataxin in Saccharomyces cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level.
Cardiomyopathies
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.
Cardiomyopathies
Clinical monitoring in a patient with friedreich ataxia and osteogenic sarcoma.
Cardiomyopathies
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
Cardiomyopathies
Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.
Cardiomyopathies
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Cardiomyopathies
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Cardiomyopathies
Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region.
Cardiomyopathies
Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia.
Cardiomyopathies
Marked variation in the cardiomyopathy associated with Friedreich's ataxia.
Cardiomyopathies
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Cardiomyopathies
Mitochondrial Fe-S cluster biogenesis, frataxin and the modulation of susceptibility to drug-induced cardiomyopathy.
Cardiomyopathies
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
Cardiomyopathies
Molecular Alterations in a Mouse Cardiac Model of Friedreich's Ataxia: An Impaired Nrf2 Response Mediated via Up-Regulation of Keap1 and Activation of the Gsk3? Axis.
Cardiomyopathies
Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.
Cardiomyopathies
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Cardiomyopathies
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
Cardiomyopathies
Proteomic analysis of hearts from frataxin knockout mice: Marked rearrangement of energy metabolism, a response to cellular stress and altered expression of proteins involved in cell structure, motility and metabolism.
Cardiomyopathies
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
Cardiomyopathies
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.
Cardiomyopathies
The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation.
Cardiomyopathies
Treatment of dilated cardiomyopathy in a mouse model of Friedreich's ataxia using N-acetylcysteine and identification of alterations in microRNA expression that could be involved in its pathogenesis.
Cardiomyopathies
[Peridural anaesthesia with ropivacaine for a patient with Friedrich's ataxia. Caesarean section after dorsal stabilisation of the spinal column (Th5-L1)]
Cardiomyopathy, Dilated
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
Cardiomyopathy, Hypertrophic
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Cardiomyopathy, Hypertrophic
Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA.
Cardiomyopathy, Hypertrophic
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Cardiomyopathy, Hypertrophic
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Cardiomyopathy, Hypertrophic
Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.
Cardiomyopathy, Hypertrophic
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
Cardiomyopathy, Hypertrophic
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
Cardiomyopathy, Hypertrophic
Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy.
Cardiomyopathy, Hypertrophic
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
Cardiomyopathy, Hypertrophic
The potential of the novel NAD+ supplementing agent, SNH6, as a therapeutic strategy for the treatment of Friedreich's ataxia.
Cardiomyopathy, Hypertrophic, Familial
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.
Cardiotoxicity
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Cardiotoxicity
The Cardioprotective Mechanism of Phenylaminoethyl Selenides (PAESe) Against Doxorubicin-Induced Cardiotoxicity Involves Frataxin.
Cardiovascular Diseases
Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Cerebellar Ataxia
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Cerebellar Ataxia
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.
Cerebellar Ataxia
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.
Cerebellar Ataxia
Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model.
Cerebellar Ataxia
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.
Chorea
Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
Choroidal Neovascularization
Ferrochelatase is a therapeutic target for ocular neovascularization.
Choroidal Neovascularization
Retinal Phenotyping of Ferrochelatase Mutant Mice Reveals Protoporphyrin Accumulation and Reduced Neovascular Response.
Colonic Neoplasms
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Colonic Neoplasms
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
Colonic Neoplasms
Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited.
Colonic Neoplasms
Loss of ferrochelatase is protective against colon cancer cells: ferrochelatase a possible regulator of the long noncoding RNA H19.
Colonic Neoplasms
Silencing of human ferrochelatase causes abundant protoporphyrin-IX accumulation in colon cancer.
Coproporphyria, Hereditary
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Death, Sudden, Cardiac
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Demyelinating Diseases
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells.
Dermatitis, Phototoxic
Chemical Proteomics Reveals Ferrochelatase as a Common Off-target of Kinase Inhibitors.
Dermatitis, Phototoxic
siRNA-mediated Knockdown of the Heme Synthesis and Degradation Pathways: Modulation of Treatment Effect of 5-Aminolevulinic Acid-based Photodynamic Therapy in Urothelial Cancer Cell Lines.
Dermatitis, Phototoxic
Tracking cancer drugs in living cells by thermal profiling of the proteome.
Diabetes Mellitus
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Diabetes Mellitus
Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 Diabetes Mellitus.
Diabetes Mellitus
[Association of polymorphic trinucleotide repeat (GAA)n of the Frataxin gene with diabetes mellitus type 2 in the Moscow population]
Diabetes Mellitus, Type 2
Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene.
Diabetes Mellitus, Type 2
An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene.
Diabetes Mellitus, Type 2
Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 Diabetes Mellitus.
Diabetes Mellitus, Type 2
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Diabetes Mellitus, Type 2
Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians.
Diabetes Mellitus, Type 2
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Diabetes Mellitus, Type 2
Low frataxin mRNA expression is associated with inflammation and oxidative stress in patients with type 2 diabetes.
Digestive System Diseases
Protoporphyrin Retention in Hepatocytes and Kupffer Cells Prevents Sclerosing Cholangitis in Erythropoietic Protoporphyria Mouse Model.
Dysarthria
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Dysarthria
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Endometrial Neoplasms
Comparative Study of the Effects of Ferrochelatase-siRNA Transfection Mediated by Ultrasound Microbubbles and Polyethyleneimine in Combination with Low-dose ALA to Enhance PpIX Accumulation in Human Endometrial Cancer Xenograft Nude Mice Models.
Friedreich Ataxia
3-Nitropropionic acid increases frataxin expression in human lymphoblasts and in transgenic rat PC12 cells.
Friedreich Ataxia
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
Friedreich Ataxia
A Drosophila model of Friedreich Ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine.
Friedreich Ataxia
A Dynamic Model of the Proteins that Form the Initial Iron-Sulfur Cluster Biogenesis Machinery in Yeast Mitochondria.
Friedreich Ataxia
A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.
Friedreich Ataxia
A gene expression phenotype in lymphocytes from Friedreich ataxia patients.
Friedreich Ataxia
A helix-coil transition induced by the metal ion interaction with a grafted iron-binding site of the CyaY protein family.
Friedreich Ataxia
A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels.
Friedreich Ataxia
A high-throughput assay for frataxin allows for newborn screening, diagnosis, and treatment monitoring of friedreich ataxia.
Friedreich Ataxia
A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia.
Friedreich Ataxia
A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.
Friedreich Ataxia
A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
Friedreich Ataxia
A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia.
Friedreich Ataxia
A non-essential function for yeast frataxin in iron-sulfur cluster assembly.
Friedreich Ataxia
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Friedreich Ataxia
A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.
Friedreich Ataxia
A novel solution-gated graphene transistor biosensor for ultrasensitive detection of trinucleotide repeats.
Friedreich Ataxia
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro.
Friedreich Ataxia
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.
Friedreich Ataxia
A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins.
Friedreich Ataxia
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.
Friedreich Ataxia
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I.
Friedreich Ataxia
A role for p53 in mitochondrial stress response control of longevity in C. elegans.
Friedreich Ataxia
A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.
Friedreich Ataxia
A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.
Friedreich Ataxia
Acidic residues of yeast frataxin have an essential role in Fe-S cluster assembly.
Friedreich Ataxia
Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.
Friedreich Ataxia
Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion.
Friedreich Ataxia
Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat.
Friedreich Ataxia
Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.
Friedreich Ataxia
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats.
Friedreich Ataxia
Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene.
Friedreich Ataxia
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
Friedreich Ataxia
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
Friedreich Ataxia
Aluminum induces neurodegeneration and its toxicity arises from increased iron accumulation and reactive oxygen species (ROS) production.
Friedreich Ataxia
An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models.
Friedreich Ataxia
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.
Friedreich Ataxia
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels.
Friedreich Ataxia
Ancestral roles of eukaryotic frataxin: mitochondrial frataxin function and heterologous expression of hydrogenosomal Trichomonas homologues in trypanosomes.
Friedreich Ataxia
Ancient repeated DNA elements and the regulation of the human frataxin promoter.
Friedreich Ataxia
Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.
Friedreich Ataxia
Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein.
Friedreich Ataxia
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.
Friedreich Ataxia
Assembly of the iron-binding protein frataxin in Saccharomyces cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level.
Friedreich Ataxia
Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia.
Friedreich Ataxia
Assignment of the 1H, 15N, and 13C resonances of the C-terminal domain of frataxin, the protein responsible for Friedreich ataxia.
Friedreich Ataxia
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Friedreich Ataxia
Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia.
Friedreich Ataxia
Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans.
Friedreich Ataxia
Backbone resonance assignments and secondary structure of the apo-Drosophila melanogaster frataxin homolog (Dfh).
Friedreich Ataxia
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Friedreich Ataxia
Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.
Friedreich Ataxia
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
Friedreich Ataxia
Binding of yeast frataxin to the scaffold for Fe-S cluster biogenesis, Isu.
Friedreich Ataxia
Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin.
Friedreich Ataxia
Biogenesis of the yeast frataxin homolog Yfh1p. Tim44-dependent transfer to mtHsp70 facilitates folding of newly imported proteins in mitochondria.
Friedreich Ataxia
Biophysical characterisation of the recombinant human frataxin precursor.
Friedreich Ataxia
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.
Friedreich Ataxia
Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice.
Friedreich Ataxia
Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia.
Friedreich Ataxia
Calpain-Inhibitors Protect Frataxin-Deficient Dorsal Root Ganglia Neurons from Loss of Mitochondrial Na+/Ca2+ Exchanger, NCLX, and Apoptosis.
Friedreich Ataxia
Can Telomere Shortening in Human Peripheral Blood Leukocytes Serve as a Disease Biomarker of Friedreich's Ataxia?
Friedreich Ataxia
Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor.
Friedreich Ataxia
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.
Friedreich Ataxia
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Friedreich Ataxia
Cells lacking pfh1, a fission yeast homolog of mammalian frataxin protein, display constitutive activation of the iron starvation response.
Friedreich Ataxia
Central role and mechanisms of ?-cell dysfunction and death in friedreich ataxia-associated diabetes.
Friedreich Ataxia
Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.
Friedreich Ataxia
Changes in mitochondrial glutathione levels and protein thiol oxidation in ?yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.
Friedreich Ataxia
Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.
Friedreich Ataxia
Characterization of frataxin gene network in Friedreich's ataxia fibroblasts using the RNA-Seq technique.
Friedreich Ataxia
Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels.
Friedreich Ataxia
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.
Friedreich Ataxia
Clinical and genetic study of Friedreich ataxia in an Australian population.
Friedreich Ataxia
Clinical monitoring in a patient with friedreich ataxia and osteogenic sarcoma.
Friedreich Ataxia
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
Friedreich Ataxia
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.
Friedreich Ataxia
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
Friedreich Ataxia
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.
Friedreich Ataxia
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
Friedreich Ataxia
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Friedreich Ataxia
Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia.
Friedreich Ataxia
Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Friedreich Ataxia
Correction to Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
Friedreich Ataxia
Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells.
Friedreich Ataxia
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.
Friedreich Ataxia
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia.
Friedreich Ataxia
Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family.
Friedreich Ataxia
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.
Friedreich Ataxia
Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.
Friedreich Ataxia
Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.
Friedreich Ataxia
Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia.
Friedreich Ataxia
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia.
Friedreich Ataxia
Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia.
Friedreich Ataxia
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.
Friedreich Ataxia
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.
Friedreich Ataxia
Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup.
Friedreich Ataxia
Differential expression of PGC-1? and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.
Friedreich Ataxia
Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.
Friedreich Ataxia
Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland.
Friedreich Ataxia
Distinct iron binding property of two putative iron donors for the iron-sulfur cluster assembly: IscA and the bacterial frataxin ortholog CyaY under physiological and oxidative stress conditions.
Friedreich Ataxia
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
Friedreich Ataxia
DNA repair pathways are altered in neural cell models of frataxin deficiency.
Friedreich Ataxia
DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia.
Friedreich Ataxia
DNA triplex structures in neurodegenerative disorder, Friedreich's ataxia.
Friedreich Ataxia
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.
Friedreich Ataxia
Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly.
Friedreich Ataxia
Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia.
Friedreich Ataxia
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.
Friedreich Ataxia
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Friedreich Ataxia
Dynamics, stability and iron-binding activity of frataxin clinical mutants.
Friedreich Ataxia
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia.
Friedreich Ataxia
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
Friedreich Ataxia
Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member.
Friedreich Ataxia
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
Friedreich Ataxia
Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.
Friedreich Ataxia
Effector Role Reversal during Evolution: The Case of Frataxin in Fe-S Cluster Biosynthesis.
Friedreich Ataxia
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.
Friedreich Ataxia
Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability.
Friedreich Ataxia
Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells.
Friedreich Ataxia
Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA.
Friedreich Ataxia
Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression.
Friedreich Ataxia
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Friedreich Ataxia
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Friedreich Ataxia
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
Friedreich Ataxia
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
Friedreich Ataxia
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit.
Friedreich Ataxia
Erratum: Selected missense mutations impair frataxin processing in Friedreich ataxia.
Friedreich Ataxia
Erythroid differentiation and protoporphyrin IX down-regulate frataxin expression in Friend cells: characterization of frataxin expression compared to molecules involved in iron metabolism and hemoglobinization.
Friedreich Ataxia
Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo.
Friedreich Ataxia
Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial.
Friedreich Ataxia
Evaluation of antibodies for western blot analysis of frataxin protein isoforms.
Friedreich Ataxia
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
Friedreich Ataxia
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Friedreich Ataxia
Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia.
Friedreich Ataxia
Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes.
Friedreich Ataxia
Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.
Friedreich Ataxia
Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
Friedreich Ataxia
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Friedreich Ataxia
Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies.
Friedreich Ataxia
Expression of human frataxin is regulated by transcription factors SRF and TFAP2.
Friedreich Ataxia
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
Friedreich Ataxia
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
Friedreich Ataxia
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
Friedreich Ataxia
Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia.
Friedreich Ataxia
Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.
Friedreich Ataxia
Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.
Friedreich Ataxia
Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia.
Friedreich Ataxia
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
Friedreich Ataxia
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
Friedreich Ataxia
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Friedreich Ataxia
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Friedreich Ataxia
Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
Friedreich Ataxia
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
Friedreich Ataxia
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Friedreich Ataxia
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model.
Friedreich Ataxia
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
Friedreich Ataxia
Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34.
Friedreich Ataxia
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.
Friedreich Ataxia
Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly.
Friedreich Ataxia
Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons.
Friedreich Ataxia
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
Friedreich Ataxia
Frataxin interacts with Isu1 through a conserved tryptophan in its beta-sheet.
Friedreich Ataxia
Frataxin is essential for extramitochondrial Fe S cluster proteins in mammalian tissues.
Friedreich Ataxia
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Friedreich Ataxia
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
Friedreich Ataxia
Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity.
Friedreich Ataxia
Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation.
Friedreich Ataxia
Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.
Friedreich Ataxia
Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro.
Friedreich Ataxia
Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.
Friedreich Ataxia
Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.
Friedreich Ataxia
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
Friedreich Ataxia
Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria.
Friedreich Ataxia
Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase.
Friedreich Ataxia
Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment.
Friedreich Ataxia
Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia.
Friedreich Ataxia
Frataxins Emerge as New Players of the Intracellular Antioxidant Machinery.
Friedreich Ataxia
Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.
Friedreich Ataxia
Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.
Friedreich Ataxia
Friedreich ataxia: an update on animal models, frataxin function and therapies.
Friedreich Ataxia
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Friedreich Ataxia
Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations.
Friedreich Ataxia
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.
Friedreich Ataxia
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
Friedreich Ataxia
Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
Friedreich Ataxia
Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
Friedreich Ataxia
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA?TTC Triplet Repeat Instability.
Friedreich Ataxia
Friedreich's Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
Friedreich Ataxia
Friedreich's Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron-Sulfur Cluster Assembly Complex.
Friedreich Ataxia
Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?
Friedreich Ataxia
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
Friedreich Ataxia
Friedreich's Ataxia: From the (GAA)( n ) Repeat Mediated Silencing to New Promising Molecules for Therapy.
Friedreich Ataxia
Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin.
Friedreich Ataxia
Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.
Friedreich Ataxia
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Friedreich Ataxia
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector.
Friedreich Ataxia
Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration.
Friedreich Ataxia
Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients.
Friedreich Ataxia
Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency.
Friedreich Ataxia
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.
Friedreich Ataxia
Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.
Friedreich Ataxia
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.
Friedreich Ataxia
Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia.
Friedreich Ataxia
Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase.
Friedreich Ataxia
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
Friedreich Ataxia
GGA*TCC-interrupted triplets in long GAA*TTC repeats inhibit the formation of triplex and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities.
Friedreich Ataxia
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFN? administration in FRDA patients.
Friedreich Ataxia
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia.
Friedreich Ataxia
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models.
Friedreich Ataxia
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Friedreich Ataxia
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells.
Friedreich Ataxia
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Friedreich Ataxia
Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation.
Friedreich Ataxia
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.
Friedreich Ataxia
Heterologous mitochondrial targeting sequences can deliver functional proteins into mitochondria.
Friedreich Ataxia
Heterotrifunctional Chemical Cross-Linking Mass Spectrometry Confirms Physical Interaction between Human Frataxin and ISU.
Friedreich Ataxia
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
Friedreich Ataxia
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Friedreich Ataxia
High-throughput immunoassay for the biochemical diagnosis of friedreich ataxia in dried blood spots and whole blood.
Friedreich Ataxia
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.
Friedreich Ataxia
His86 from the N-Terminus of Frataxin Coordinates Iron and Is Required for Fe-S Cluster Synthesis.
Friedreich Ataxia
HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia.
Friedreich Ataxia
HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis.
Friedreich Ataxia
Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.
Friedreich Ataxia
Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Friedreich Ataxia
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Friedreich Ataxia
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
Friedreich Ataxia
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.
Friedreich Ataxia
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis.
Friedreich Ataxia
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Friedreich Ataxia
Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.
Friedreich Ataxia
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
Friedreich Ataxia
Identification of a novel missense mutation in Friedreich's ataxia -FXNW168R.
Friedreich Ataxia
Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia.
Friedreich Ataxia
Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia.
Friedreich Ataxia
Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia.
Friedreich Ataxia
Impaired respiration is positively correlated with decreased life span in Caenorhabditis elegans models of Friedreich Ataxia.
Friedreich Ataxia
Improved Histone Deacetylase Inhibitors as Therapeutics for the Neurodegenerative Disease Friedreich's Ataxia: A New Synthetic Route.
Friedreich Ataxia
In Vitro interaction between yeast frataxin and superoxide dismutases: Influence of mitochondrial metals.
Friedreich Ataxia
In vivo survival and differentiation of Friedreich ataxia iPSC-derived sensory neurons transplanted in the adult dorsal root ganglia.
Friedreich Ataxia
Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
Friedreich Ataxia
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Friedreich Ataxia
Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag.
Friedreich Ataxia
Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia.
Friedreich Ataxia
Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Upregulate Frataxin During In Vitro Differentiation to Peripheral Sensory Neurons.
Friedreich Ataxia
Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.
Friedreich Ataxia
Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.
Friedreich Ataxia
Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.
Friedreich Ataxia
Insertion mutants in Drosophila melanogaster Hsc20 halt larval growth and lead to reduced iron-sulfur cluster enzyme activities and impaired iron homeostasis.
Friedreich Ataxia
Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells.
Friedreich Ataxia
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
Friedreich Ataxia
Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich's ataxia.
Friedreich Ataxia
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.
Friedreich Ataxia
Iron binding and oxidation kinetics in frataxin CyaY of Escherichia coli.
Friedreich Ataxia
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Friedreich Ataxia
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
Friedreich Ataxia
Iron trafficking in the mitochondrion: novel pathways revealed by disease.
Friedreich Ataxia
Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region.
Friedreich Ataxia
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Friedreich Ataxia
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
Friedreich Ataxia
Iron-induced oligomerization of human FXN81-210 and bacterial CyaY frataxin and the effect of iron chelators.
Friedreich Ataxia
Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo.
Friedreich Ataxia
Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia.
Friedreich Ataxia
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
Friedreich Ataxia
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.
Friedreich Ataxia
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.
Friedreich Ataxia
Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.
Friedreich Ataxia
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
Friedreich Ataxia
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.
Friedreich Ataxia
Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich's ataxia.
Friedreich Ataxia
Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
Friedreich Ataxia
Liver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich's Ataxia Transgenic Mice.
Friedreich Ataxia
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.
Friedreich Ataxia
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia.
Friedreich Ataxia
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Friedreich Ataxia
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Friedreich Ataxia
Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals.
Friedreich Ataxia
Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Friedreich Ataxia
Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
Friedreich Ataxia
Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia.
Friedreich Ataxia
Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
Friedreich Ataxia
Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly.
Friedreich Ataxia
Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols.
Friedreich Ataxia
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
Friedreich Ataxia
Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia.
Friedreich Ataxia
Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
Friedreich Ataxia
Marked variation in the cardiomyopathy associated with Friedreich's ataxia.
Friedreich Ataxia
Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.
Friedreich Ataxia
Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.
Friedreich Ataxia
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
Friedreich Ataxia
Mechanism of Action of 2-Aminobenzamide HDAC Inhibitors in Reversing Gene Silencing in Friedreich's Ataxia.
Friedreich Ataxia
Mechanism of activation of the human cysteine desulfurase complex by frataxin.
Friedreich Ataxia
Mechanism of frataxin "bypass" in human iron-sulfur cluster biosynthesis with implications for Friedreich's ataxia.
Friedreich Ataxia
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Friedreich Ataxia
Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells.
Friedreich Ataxia
Mesenchymal stem cells restore frataxin expression and increase hydrogen peroxide scavenging enzymes in Friedreich ataxia fibroblasts.
Friedreich Ataxia
Metabolic remodeling in frataxin-deficient yeast is mediated by Cth2 and Adr1.
Friedreich Ataxia
Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.
Friedreich Ataxia
Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
Friedreich Ataxia
Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants.
Friedreich Ataxia
Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.
Friedreich Ataxia
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Friedreich Ataxia
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.
Friedreich Ataxia
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Friedreich Ataxia
Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae.
Friedreich Ataxia
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Friedreich Ataxia
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
Friedreich Ataxia
Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei.
Friedreich Ataxia
Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.
Friedreich Ataxia
Molecular analysis of Friedreich's ataxia locus in the Indian population.
Friedreich Ataxia
Molecular and Cellular Substrates for the Friedreich Ataxia. Significance of Contactin Expression and of Antioxidant Administration.
Friedreich Ataxia
Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia: Activation of the Integrated Stress Response, eIF2? Phosphorylation, and the Induction of Downstream Targets.
Friedreich Ataxia
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
Friedreich Ataxia
Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.
Friedreich Ataxia
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
Friedreich Ataxia
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Friedreich Ataxia
Monitoring cardiac function during idebenone therapy in Friedreich's ataxia.
Friedreich Ataxia
Mrs3p, mrs4p, and frataxin provide iron for Fe-S cluster synthesis in mitochondria.
Friedreich Ataxia
Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis.
Friedreich Ataxia
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.
Friedreich Ataxia
Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy.
Friedreich Ataxia
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Friedreich Ataxia
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.
Friedreich Ataxia
Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial.
Friedreich Ataxia
New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
Friedreich Ataxia
Nitric oxide prevents Aft1 activation and metabolic remodeling in frataxin-deficient yeast.
Friedreich Ataxia
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells.
Friedreich Ataxia
Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly.
Friedreich Ataxia
Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.
Friedreich Ataxia
North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion.
Friedreich Ataxia
Novel antibody-based strategies for the rapid diagnosis of mitochondrial disease and dysfunction.
Friedreich Ataxia
Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia.
Friedreich Ataxia
Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.
Friedreich Ataxia
Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells.
Friedreich Ataxia
Oligomerization propensity and flexibility of yeast frataxin studied by X-ray crystallography and small-angle X-ray scattering.
Friedreich Ataxia
Oligonucleotides Hold Promise as a Therapy for Friedreich's Ataxia: Friedreich's ataxia currently is incurable, but synthetic antisense oligonucleotides have demonstrated promising results in increasing frataxin gene expression and restoring it to normal levels.
Friedreich Ataxia
Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila.
Friedreich Ataxia
Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.
Friedreich Ataxia
Overexpression of the yeast frataxin homolog (Yfh1): contrasting effects on iron-sulfur cluster assembly, heme synthesis and resistance to oxidative stress.
Friedreich Ataxia
p53/CEP-1 Increases or Decreases Lifespan, Depending on Level of Mitochondrial Bioenergetic Stress.
Friedreich Ataxia
Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia.
Friedreich Ataxia
Pathophysiology of the optic neuropathy associated with Friedreich ataxia.
Friedreich Ataxia
Peptide nucleic acid (PNA) binding and its effect on in vitro transcription in friedreich's ataxia triplet repeats.
Friedreich Ataxia
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia.
Friedreich Ataxia
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
Friedreich Ataxia
Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich's ataxia cells.
Friedreich Ataxia
Phosphorus-31 two-dimensional chemical shift imaging in the myocardium of patients with late onset of Friedreich ataxia.
Friedreich Ataxia
Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.
Friedreich Ataxia
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Friedreich Ataxia
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
Friedreich Ataxia
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Friedreich Ataxia
Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan.
Friedreich Ataxia
Preventing the ubiquitin-proteasome-dependent degradation of frataxin, the protein defective in Friedreich's ataxia.
Friedreich Ataxia
Probing the kinetic stabilities of Friedreich's ataxia clinical variants using a solid phase GroEL chaperonin capture platform.
Friedreich Ataxia
Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein.
Friedreich Ataxia
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Friedreich Ataxia
Prospects for the use of artificial chromosomes and minichromosome-like episomes in gene therapy.
Friedreich Ataxia
Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
Friedreich Ataxia
Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.
Friedreich Ataxia
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia.
Friedreich Ataxia
Randomized, double-blind, placebo-controlled study of interferon-? 1b in Friedreich Ataxia.
Friedreich Ataxia
Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for friedreich ataxia.
Friedreich Ataxia
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.
Friedreich Ataxia
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.
Friedreich Ataxia
Recombinant human erythropoietin: effects on frataxin expression in vitro.
Friedreich Ataxia
Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans.
Friedreich Ataxia
Reduction in frataxin causes progressive accumulation of mitochondrial damage.
Friedreich Ataxia
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant.
Friedreich Ataxia
Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients.
Friedreich Ataxia
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
Friedreich Ataxia
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.
Friedreich Ataxia
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Friedreich Ataxia
Review: Iron metabolism and the role of iron in neurodegenerative disorders.
Friedreich Ataxia
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
Friedreich Ataxia
Rocuronium for muscle relaxation in two children with Friedreich's ataxia.
Friedreich Ataxia
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Friedreich Ataxia
Role of long purine stretches in controlling the expression of genes associated with neurological disorders.
Friedreich Ataxia
Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.
Friedreich Ataxia
Selected missense mutations impair frataxin processing in Friedreich ataxia.
Friedreich Ataxia
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.
Friedreich Ataxia
Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
Friedreich Ataxia
SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
Friedreich Ataxia
Skeletal muscle involvement in friedreich ataxia and potential effects of recombinant human erythropoietin administration on muscle regeneration and neovascularization.
Friedreich Ataxia
Solution structure of the bacterial frataxin ortholog, CyaY: mapping the iron binding sites.
Friedreich Ataxia
Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.
Friedreich Ataxia
Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice.
Friedreich Ataxia
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
Friedreich Ataxia
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
Friedreich Ataxia
Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.
Friedreich Ataxia
Sticky DNA, a long GAA.GAA.TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene.
Friedreich Ataxia
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription.
Friedreich Ataxia
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.
Friedreich Ataxia
Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy.
Friedreich Ataxia
Structural and functional characterization of a frataxin from a thermophilic organism.
Friedreich Ataxia
Structural bases for the interaction of frataxin with the central components of iron-sulphur cluster assembly.
Friedreich Ataxia
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
Friedreich Ataxia
Structure-Function Analysis of Friedreich's Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe-S Assembly Complex.
Friedreich Ataxia
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
Friedreich Ataxia
Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV-1 vector.
Friedreich Ataxia
Synthetic transcription elongation factors license transcription across repressive chromatin.
Friedreich Ataxia
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.
Friedreich Ataxia
Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia.
Friedreich Ataxia
The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.
Friedreich Ataxia
The conserved Trp155 in human frataxin as a hotspot for oxidative stress related chemical modifications.
Friedreich Ataxia
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
Friedreich Ataxia
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins.
Friedreich Ataxia
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients.
Friedreich Ataxia
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
Friedreich Ataxia
The factors governing the thermal stability of frataxin orthologues: how to increase a protein's stability.
Friedreich Ataxia
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
Friedreich Ataxia
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Friedreich Ataxia
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
Friedreich Ataxia
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
Friedreich Ataxia
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
Friedreich Ataxia
The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia.
Friedreich Ataxia
The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia.
Friedreich Ataxia
The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S biogenesis in Escherichia coli.
Friedreich Ataxia
The pathogenesis of Friedreich ataxia and the structure and function of frataxin.
Friedreich Ataxia
The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly.
Friedreich Ataxia
The potential of the novel NAD+ supplementing agent, SNH6, as a therapeutic strategy for the treatment of Friedreich's ataxia.
Friedreich Ataxia
The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion.
Friedreich Ataxia
The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.
Friedreich Ataxia
The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron.
Friedreich Ataxia
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins.
Friedreich Ataxia
The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle.
Friedreich Ataxia
The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells.
Friedreich Ataxia
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
Friedreich Ataxia
TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia.
Friedreich Ataxia
Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin.
Friedreich Ataxia
Transcription activator-like effector proteins induce the expression of the frataxin gene.
Friedreich Ataxia
Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures.
Friedreich Ataxia
Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases.
Friedreich Ataxia
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.
Friedreich Ataxia
Transposon Tn7 preferentially inserts into GAA*TTC triplet repeats under conditions conducive to Y*R*Y triplex formation.
Friedreich Ataxia
Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia.
Friedreich Ataxia
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.
Friedreich Ataxia
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.
Friedreich Ataxia
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model.
Friedreich Ataxia
Understanding the binding properties of an unusual metal-binding protein--a study of bacterial frataxin.
Friedreich Ataxia
Understanding the frustration arising from the competition between function, misfolding, and aggregation in a globular protein.
Friedreich Ataxia
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
Friedreich Ataxia
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Friedreich Ataxia
Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia.
Friedreich Ataxia
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.
Friedreich Ataxia
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia.
Friedreich Ataxia
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.
Friedreich Ataxia
Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.
Friedreich Ataxia
Yeast frataxin mutants display decreased superoxide dismutase activity crucial to promote protein oxidative damage.
Friedreich Ataxia
YFH1-mediated iron homeostasis is independent of mitochondrial respiration.
Friedreich Ataxia
[A 60-year-old man with intention tremor as an initial symptom followed by cerebellar ataxia, peripheral neuropathy and dementia]
Friedreich Ataxia
[Production and application of polyclonal antibody against mouse frataxin].
Gait Ataxia
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
Gait Disorders, Neurologic
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Genetic Diseases, Inborn
A Dynamic Model of the Proteins that Form the Initial Iron-Sulfur Cluster Biogenesis Machinery in Yeast Mitochondria.
Genetic Diseases, Inborn
Amelioration of the metabolic defect in erythropoietic protoporphyria by expression of human ferrochelatase in cultured cells.
Genetic Diseases, Inborn
An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models.
Genetic Diseases, Inborn
Assembly of the iron-binding protein frataxin in Saccharomyces cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level.
Genetic Diseases, Inborn
Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Genetic Diseases, Inborn
Cells lacking pfh1, a fission yeast homolog of mammalian frataxin protein, display constitutive activation of the iron starvation response.
Genetic Diseases, Inborn
Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.
Genetic Diseases, Inborn
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Genetic Diseases, Inborn
Evaluation of antibodies for western blot analysis of frataxin protein isoforms.
Genetic Diseases, Inborn
Evidence for neurological dysfunction in end-stage protoporphyric liver disease.
Genetic Diseases, Inborn
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
Genetic Diseases, Inborn
Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
Genetic Diseases, Inborn
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Genetic Diseases, Inborn
Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.
Genetic Diseases, Inborn
Inactivation of protoporphyrin IX in erythrocytes in patients with erythropoietic protoporphyria: a new treatment modality.
Genetic Diseases, Inborn
Liver metabolomics in a mouse model of erythropoietic protoporphyria.
Genetic Diseases, Inborn
Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy.
Genetic Diseases, Inborn
Modulation of hepatic ferrochelatase activity by dietary manipulation of mitochondrial phospholipid fatty acyl groups.
Genetic Diseases, Inborn
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
Genetic Diseases, Inborn
Molecular studies of liver disease in erythropoietic protoporphyria.
Genetic Diseases, Inborn
Oxidative stress and altered lipid metabolism in Friedreich ataxia.
Genetic Diseases, Inborn
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy.
Genetic Diseases, Inborn
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
Genetic Diseases, Inborn
Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein.
Genetic Diseases, Inborn
Red blood cell exchange transfusion in two patients with advanced erythropoietic protoporphyria.
Genetic Diseases, Inborn
[Anesthetic Management under Spinal Anesthesia in a Patient with Erythropoietic Protoporphyria].
Glioma
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Glioma
The Correlation of Fluorescence of Protoporphyrinogen IX and Status of Isocitrate Dehydrogenase in Gliomas.
Glucose Intolerance
Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene.
Glucose Intolerance
[Peridural anaesthesia with ropivacaine for a patient with Friedrich's ataxia. Caesarean section after dorsal stabilisation of the spinal column (Th5-L1)]
glycogen phosphorylase deficiency
Internal restriction sites: quality assurance aids in genotyping.
Glycogen Storage Disease Type V
Internal restriction sites: quality assurance aids in genotyping.
Heart Diseases
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Heart Diseases
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Heart Diseases
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
Heart Diseases
The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron.
Heart Failure
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.
Heart Failure
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Heart Failure
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Hematologic Diseases
Acquired erythropoietic protoporphyria: A systematic review of the literature.
Hematologic Neoplasms
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Hematologic Neoplasms
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
Heredodegenerative Disorders, Nervous System
Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.
Heredodegenerative Disorders, Nervous System
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
Heredodegenerative Disorders, Nervous System
Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
Heredodegenerative Disorders, Nervous System
Mechanisms of iron and copper-frataxin interactions.
Heredodegenerative Disorders, Nervous System
Rocuronium for muscle relaxation in two children with Friedreich's ataxia.
Heredodegenerative Disorders, Nervous System
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
Heredodegenerative Disorders, Nervous System
Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.
Herpes Simplex
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector.
Huntington Disease
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
Hyperlipidemias
Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice.
Hypersensitivity
Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
Hypersensitivity
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
Hypersensitivity
The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells.
Hypertension, Pulmonary
Frataxin and endothelial cell senescence in pulmonary hypertension.
Hypertension, Pulmonary
Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.
Hypertension, Pulmonary
Heme Biosynthesis Modulation via ?-Aminolevulinic Acid Administration Attenuates Chronic Hypoxia-induced Pulmonary Hypertension.
Hypertrophy, Left Ventricular
The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
Infections
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector.
Infections
Griseofulvin impairs intraerythrocytic growth of Plasmodium falciparum through ferrochelatase inhibition but lacks activity in an experimental human infection study.
Insulin Resistance
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Iron Deficiencies
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Iron Deficiencies
Evaluation of iron status in patients on chronic hemodialysis: relative usefulness of bone marrow hemosiderin, serum ferritin, transferrin saturation, mean corpuscular volume and red cell protoporphyrin.
Iron Deficiencies
Loss of mitochondrial localization of human FANCG causes defective FANCJ helicase.
Iron Deficiencies
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.
Iron Deficiencies
The elevation of blood levels of zinc protoporphyrin in mice following whole body irradiation.
Iron Deficiencies
The Escherichia coli small protein MntS and exporter MntP optimize the intracellular concentration of manganese.
Iron Overload
Cardioprotective HIF-1?-frataxin signaling against ischemia-reperfusion injury.
Iron Overload
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Iron Overload
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Iron Overload
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Iron Overload
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Iron Overload
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
Iron Overload
Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy.
Iron Overload
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
Iron Overload
The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models.
Iron Overload
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Iron Overload
Yeast frataxin mutants display decreased superoxide dismutase activity crucial to promote protein oxidative damage.
Keratoderma, Palmoplantar
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
Leukemia
5-aza-2'-deoxycytidine activates iron uptake and heme biosynthesis by increasing c-Myc nuclear localization and binding to the E-boxes of transferrin receptor 1 (TfR1) and ferrochelatase (Fech) genes.
Leukemia
Imatinib inhibits the expression of SCO2 and FRATAXIN genes that encode mitochondrial proteins in human Bcr-Abl(+) leukemia cells.
Leukemia, Erythroblastic, Acute
Characterization of ferrochelatase in kidney and erythroleukemia cells.
Leukemia, Erythroblastic, Acute
Expression of ferrochelatase mRNA in erythroid and non-erythroid cells.
Leukemia, Erythroblastic, Acute
Ferrochelatase forms an oligomeric complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthesis.
Leukemia, Erythroblastic, Acute
Ferrochelatase, glutathione peroxidase and transferrin receptor mRNA synthesis and levels in mouse erythroleukemia cells.
Leukemia, Erythroblastic, Acute
Heme biosynthesis in Friend erythroleukemia cells: control by ferrochelatase.
Leukemia, Erythroblastic, Acute
Induction of terminal enzymes for heme biosynthesis during differentiation of mouse erythroleukemia cells.
Leukemia, Erythroblastic, Acute
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.
Leukemia, Erythroblastic, Acute
Mechanisms involved in delta-aminolevulinic acid (ALA)-induced photosensitivity of tumor cells: relation of ferrochelatase and uptake of ALA to the accumulation of protoporphyrin.
Leukemia, Erythroblastic, Acute
Molecular cloning, sequencing, and expression of mouse ferrochelatase.
Leukemia, Erythroblastic, Acute
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.
Leukemia, Erythroblastic, Acute
Regulation of the expression of human ferrochelatase by intracellular iron levels.
Leukemia, Erythroblastic, Acute
Regulation of the ferrochelatase gene expression during differentiation of mouse erythroleukemia cells.
Leukemia, Erythroblastic, Acute
Structure and transcriptional regulation of the mouse ferrochelatase gene.
Leukemia, Erythroblastic, Acute
Use of iron from transferrin and microbial chelates as substrate for heme synthetase in transformed and primary erythroid cell cultures.
Leukemia, Myeloid
Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.
Liver Diseases
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.
Liver Diseases
Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.
Liver Diseases
Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice.
Liver Diseases
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Liver Diseases
Oxidative stress, Nrf2 and keratin upregulation associate with Mallory-Denk body formation in mouse erythropoietic protoporphyria.
Liver Diseases
Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase.
Liver Diseases
Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria.
Liver Diseases, Alcoholic
Coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase activities in human liver biopsies with special reference to alcoholic liver disease.
Liver Failure
Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.
Liver Failure
Clinical implications of the molecular biology of erythropoietic protoporphyria.
Liver Failure
Molecular defect in human erythropoietic protoporphyria with fatal liver failure.
Lymphoma
Alectinib treatment improves photodynamic therapy in cancer cell lines of different origin.
Lymphoma, Large B-Cell, Diffuse
Mechanism of cell death by 5-aminolevulinic acid-based photodynamic action and its enhancement by ferrochelatase inhibitors in human histiocytic lymphoma cell line U937.
Malaria
Malaria parasite-synthesized heme is essential in the mosquito and liver stages and complements host heme in the blood stages of infection.
Medulloblastoma
Accumulation of protoporphyrin IX in medulloblastoma cell lines and sensitivity to subsequent photodynamic treatment.
Melanoma
Chemical Proteomics Reveals Ferrochelatase as a Common Off-target of Kinase Inhibitors.
Melanoma
[Effect of toxohormone, endogenic or isolated from melanoma, on the activity of liver ferrochelatase in the Syrian hamster]
Melanoma, Amelanotic
Photodynamic therapy with 5-aminolaevulinic acid-induced porphyrins of an amelanotic melanoma in vivo.
Meningioma
Susceptibility to 5-aminolevulinic acid based photodynamic therapy in WHO I meningioma cells corresponds to ferrochelatase activity.
Metabolic Diseases
Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.
Metabolic Syndrome
Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.
Mitochondrial Diseases
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Mitochondrial Diseases
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.
Mitochondrial Diseases
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Mitochondrial Diseases
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Mitochondrial Diseases
Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives.
Mitochondrial Diseases
Review: Iron metabolism and the role of iron in neurodegenerative disorders.
Mitochondrial Diseases
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Mitochondrial Diseases
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.
Mitochondrial Diseases
The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications.
Mitochondrial Myopathies
Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
Movement Disorders
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.
Movement Disorders
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.
Movement Disorders
Movement disorders: Targeted RNA or BDNF gene transfer protects against frataxin deficiency.
Multiple System Atrophy
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
Muscle Weakness
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Muscle Weakness
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Muscle Weakness
[Peridural anaesthesia with ropivacaine for a patient with Friedrich's ataxia. Caesarean section after dorsal stabilisation of the spinal column (Th5-L1)]
Muscular Diseases
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.
Myelodysplastic Syndromes
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Myelodysplastic Syndromes
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
Myeloproliferative Disorders
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
Myeloproliferative Disorders
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
Neoplasms
A regulatory role for porphobilinogen deaminase (PBGD) in delta-aminolaevulinic acid (delta-ALA)-induced photosensitization?
Neoplasms
Alectinib treatment improves photodynamic therapy in cancer cell lines of different origin.
Neoplasms
Cell-type specific protoporphyrin IX metabolism in human bladder cancer in vitro.
Neoplasms
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Neoplasms
Differential interaction of porphyrins used in photoradiation therapy with ferrochelatase.
Neoplasms
Efficacy of 5-Aminolevulinic Acid in Photodynamic Detection and Photodynamic Therapy in Veterinary Medicine.
Neoplasms
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Neoplasms
Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro.
Neoplasms
Histone deacetylase inhibitors modulating non-epigenetic players: The novel molecular targets for therapeutic intervention.
Neoplasms
In vivo tumor growth is inhibited by cytosolic iron deprivation caused by the expression of mitochondrial ferritin.
Neoplasms
Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited.
Neoplasms
Iron chelation promotes 5-aminolaevulinic acid-based photodynamic therapy against oral tongue squamous cell carcinoma.
Neoplasms
Low frataxin mRNA expression is associated with inflammation and oxidative stress in patients with type 2 diabetes.
Neoplasms
Mechanism of cell death by 5-aminolevulinic acid-based photodynamic action and its enhancement by ferrochelatase inhibitors in human histiocytic lymphoma cell line U937.
Neoplasms
Mechanisms involved in delta-aminolevulinic acid (ALA)-induced photosensitivity of tumor cells: relation of ferrochelatase and uptake of ALA to the accumulation of protoporphyrin.
Neoplasms
MEK reduces cancer-specific PpIX accumulation through the RSK-ABCB1 and HIF-1?-FECH axes.
Neoplasms
Metabolic characterization of tumor cell-specific protoporphyrin IX accumulation after exposure to 5-aminolevulinic acid in human colonic cells.
Neoplasms
Mitochondrial localization of ABC transporter ABCG2 and its function in 5-aminolevulinic acid-mediated protoporphyrin IX accumulation.
Neoplasms
p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron.
Neoplasms
Protoporphyrin-IX accumulation and cutaneous tumor regression in mice using a ferrochelatase inhibitor.
Neoplasms
Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats.
Neoplasms
Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice.
Neoplasms
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.
Neoplasms
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Neoplasms
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
Neoplasms
The p53-Dependent Expression of Frataxin Controls 5-Aminolevulinic Acid-Induced Accumulation of Protoporphyrin IX and Photo-Damage in Cancerous Cells.
Neoplasms
[Ferrochelatase, ALA-dehydrase and ALA-synthetase activity in human tumor tissues]
Nervous System Diseases
Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat.
Nervous System Diseases
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant.
Nervous System Diseases
The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle.
Neuroblastoma
Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
Neuroblastoma
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Neuroblastoma
Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
Neurodegenerative Diseases
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy.
Neurodegenerative Diseases
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
Neurodegenerative Diseases
A gene expression phenotype in lymphocytes from Friedreich ataxia patients.
Neurodegenerative Diseases
A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels.
Neurodegenerative Diseases
A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia.
Neurodegenerative Diseases
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Neurodegenerative Diseases
A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
Neurodegenerative Diseases
A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.
Neurodegenerative Diseases
A novel solution-gated graphene transistor biosensor for ultrasensitive detection of trinucleotide repeats.
Neurodegenerative Diseases
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.
Neurodegenerative Diseases
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I.
Neurodegenerative Diseases
A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.
Neurodegenerative Diseases
Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion.
Neurodegenerative Diseases
Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.
Neurodegenerative Diseases
Alleviating GAA repeat induced transcriptional silencing of the Friedreich's ataxia gene during somatic cell reprogramming.
Neurodegenerative Diseases
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
Neurodegenerative Diseases
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.
Neurodegenerative Diseases
Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein.
Neurodegenerative Diseases
Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia.
Neurodegenerative Diseases
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Neurodegenerative Diseases
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Neurodegenerative Diseases
Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.
Neurodegenerative Diseases
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
Neurodegenerative Diseases
Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia.
Neurodegenerative Diseases
Can Telomere Shortening in Human Peripheral Blood Leukocytes Serve as a Disease Biomarker of Friedreich's Ataxia?
Neurodegenerative Diseases
Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor.
Neurodegenerative Diseases
Central role and mechanisms of ?-cell dysfunction and death in friedreich ataxia-associated diabetes.
Neurodegenerative Diseases
Changes in mitochondrial glutathione levels and protein thiol oxidation in ?yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.
Neurodegenerative Diseases
Characterization of human frataxin missense variants in cancer tissues.
Neurodegenerative Diseases
Clinical monitoring in a patient with friedreich ataxia and osteogenic sarcoma.
Neurodegenerative Diseases
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Neurodegenerative Diseases
Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding.
Neurodegenerative Diseases
Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia.
Neurodegenerative Diseases
Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Neurodegenerative Diseases
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia.
Neurodegenerative Diseases
Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family.
Neurodegenerative Diseases
Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia.
Neurodegenerative Diseases
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia.
Neurodegenerative Diseases
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.
Neurodegenerative Diseases
Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.
Neurodegenerative Diseases
Distinct iron binding property of two putative iron donors for the iron-sulfur cluster assembly: IscA and the bacterial frataxin ortholog CyaY under physiological and oxidative stress conditions.
Neurodegenerative Diseases
DNA repair pathways are altered in neural cell models of frataxin deficiency.
Neurodegenerative Diseases
Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly.
Neurodegenerative Diseases
Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia.
Neurodegenerative Diseases
Dynamics, stability and iron-binding activity of frataxin clinical mutants.
Neurodegenerative Diseases
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia.
Neurodegenerative Diseases
Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.
Neurodegenerative Diseases
Effector Role Reversal during Evolution: The Case of Frataxin in Fe-S Cluster Biosynthesis.
Neurodegenerative Diseases
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.
Neurodegenerative Diseases
Effects of Fe2+/Fe3+ Binding to Human Frataxin and Its D122Y Variant, as Revealed by Site-Directed Spin Labeling (SDSL) EPR Complemented by Fluorescence and Circular Dichroism Spectroscopies.
Neurodegenerative Diseases
Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability.
Neurodegenerative Diseases
Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA.
Neurodegenerative Diseases
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
Neurodegenerative Diseases
Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo.
Neurodegenerative Diseases
Evaluation of an FRDA-EGFP genomic reporter assay in transgenic mice.
Neurodegenerative Diseases
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Neurodegenerative Diseases
Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies.
Neurodegenerative Diseases
Expression of human frataxin is regulated by transcription factors SRF and TFAP2.
Neurodegenerative Diseases
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
Neurodegenerative Diseases
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
Neurodegenerative Diseases
Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.
Neurodegenerative Diseases
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Neurodegenerative Diseases
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Neurodegenerative Diseases
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
Neurodegenerative Diseases
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.
Neurodegenerative Diseases
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
Neurodegenerative Diseases
Frataxin interacts with Isu1 through a conserved tryptophan in its beta-sheet.
Neurodegenerative Diseases
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Neurodegenerative Diseases
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
Neurodegenerative Diseases
Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity.
Neurodegenerative Diseases
Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria.
Neurodegenerative Diseases
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA?TTC Triplet Repeat Instability.
Neurodegenerative Diseases
Friedreich's Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron-Sulfur Cluster Assembly Complex.
Neurodegenerative Diseases
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
Neurodegenerative Diseases
Friedreich's Ataxia: From the (GAA)( n ) Repeat Mediated Silencing to New Promising Molecules for Therapy.
Neurodegenerative Diseases
Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin.
Neurodegenerative Diseases
Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency.
Neurodegenerative Diseases
Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.
Neurodegenerative Diseases
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.
Neurodegenerative Diseases
Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia.
Neurodegenerative Diseases
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia.
Neurodegenerative Diseases
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models.
Neurodegenerative Diseases
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Neurodegenerative Diseases
Heterotrifunctional Chemical Cross-Linking Mass Spectrometry Confirms Physical Interaction between Human Frataxin and ISU.
Neurodegenerative Diseases
His86 from the N-Terminus of Frataxin Coordinates Iron and Is Required for Fe-S Cluster Synthesis.
Neurodegenerative Diseases
HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia.
Neurodegenerative Diseases
HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis.
Neurodegenerative Diseases
Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.
Neurodegenerative Diseases
Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Neurodegenerative Diseases
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
Neurodegenerative Diseases
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Neurodegenerative Diseases
Impaired respiration is positively correlated with decreased life span in Caenorhabditis elegans models of Friedreich Ataxia.
Neurodegenerative Diseases
Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Upregulate Frataxin During In Vitro Differentiation to Peripheral Sensory Neurons.
Neurodegenerative Diseases
Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.
Neurodegenerative Diseases
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Neurodegenerative Diseases
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
Neurodegenerative Diseases
Iron-induced oligomerization of human FXN81-210 and bacterial CyaY frataxin and the effect of iron chelators.
Neurodegenerative Diseases
Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo.
Neurodegenerative Diseases
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
Neurodegenerative Diseases
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.
Neurodegenerative Diseases
Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.
Neurodegenerative Diseases
Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich's ataxia.
Neurodegenerative Diseases
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Neurodegenerative Diseases
Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals.
Neurodegenerative Diseases
Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Neurodegenerative Diseases
Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
Neurodegenerative Diseases
Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols.
Neurodegenerative Diseases
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
Neurodegenerative Diseases
Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.
Neurodegenerative Diseases
Mechanism of activation of the human cysteine desulfurase complex by frataxin.
Neurodegenerative Diseases
Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.
Neurodegenerative Diseases
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Neurodegenerative Diseases
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Neurodegenerative Diseases
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Neurodegenerative Diseases
Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.
Neurodegenerative Diseases
Molecular analysis of Friedreich's ataxia locus in the Indian population.
Neurodegenerative Diseases
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
Neurodegenerative Diseases
Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis.
Neurodegenerative Diseases
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.
Neurodegenerative Diseases
New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
Neurodegenerative Diseases
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells.
Neurodegenerative Diseases
Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia.
Neurodegenerative Diseases
Oligomerization propensity and flexibility of yeast frataxin studied by X-ray crystallography and small-angle X-ray scattering.
Neurodegenerative Diseases
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia.
Neurodegenerative Diseases
Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich's ataxia cells.
Neurodegenerative Diseases
Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.
Neurodegenerative Diseases
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
Neurodegenerative Diseases
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Neurodegenerative Diseases
Probing the kinetic stabilities of Friedreich's ataxia clinical variants using a solid phase GroEL chaperonin capture platform.
Neurodegenerative Diseases
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Neurodegenerative Diseases
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.
Neurodegenerative Diseases
Recombinant human erythropoietin: effects on frataxin expression in vitro.
Neurodegenerative Diseases
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Neurodegenerative Diseases
Role of long purine stretches in controlling the expression of genes associated with neurological disorders.
Neurodegenerative Diseases
Sensitivity of FRDA lymphoblasts to salts of transition metal ions.
Neurodegenerative Diseases
Solution structure of the bacterial frataxin ortholog, CyaY: mapping the iron binding sites.
Neurodegenerative Diseases
Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
Neurodegenerative Diseases
Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice.
Neurodegenerative Diseases
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription.
Neurodegenerative Diseases
Structural and functional characterization of a frataxin from a thermophilic organism.
Neurodegenerative Diseases
Structure-Function Analysis of Friedreich's Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe-S Assembly Complex.
Neurodegenerative Diseases
Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV-1 vector.
Neurodegenerative Diseases
Synthetic transcription elongation factors license transcription across repressive chromatin.
Neurodegenerative Diseases
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients.
Neurodegenerative Diseases
The factors governing the thermal stability of frataxin orthologues: how to increase a protein's stability.
Neurodegenerative Diseases
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
Neurodegenerative Diseases
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
Neurodegenerative Diseases
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
Neurodegenerative Diseases
The in vivo mitochondrial two-step maturation of human frataxin.
Neurodegenerative Diseases
The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia.
Neurodegenerative Diseases
The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S biogenesis in Escherichia coli.
Neurodegenerative Diseases
The N-terminus of mature human frataxin is intrinsically unfolded.
Neurodegenerative Diseases
The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly.
Neurodegenerative Diseases
The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.
Neurodegenerative Diseases
The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells.
Neurodegenerative Diseases
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
Neurodegenerative Diseases
Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures.
Neurodegenerative Diseases
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.
Neurodegenerative Diseases
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.
Neurodegenerative Diseases
Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism.
Neurodegenerative Diseases
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Neurodegenerative Diseases
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia.
Neurodegenerative Diseases
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.
Neurodegenerative Diseases
Yeast frataxin sequentially chaperones and stores iron by coupling protein assembly with iron oxidation.
Neurodegenerative Diseases
[Production and application of polyclonal antibody against mouse frataxin].
Obesity
Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity.
Oligodendroglioma
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells.
Optic Atrophy
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Optic Nerve Diseases
Pathophysiology of the optic neuropathy associated with Friedreich ataxia.
Paralysis, Hyperkalemic Periodic
Internal restriction sites: quality assurance aids in genotyping.
Paraparesis, Spastic
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Parkinson Disease
Association study between iron-related genes polymorphisms and Parkinson's disease.
Pheochromocytoma
3-Nitropropionic acid increases frataxin expression in human lymphoblasts and in transgenic rat PC12 cells.
Photophobia
Isolation and characterization of a cDNA from soybean and its homolog from Escherichia coli, which both complement the light sensitivity of Escherichia coli hemH mutant strain VS101.
Photosensitivity Disorders
A regulatory role for porphobilinogen deaminase (PBGD) in delta-aminolaevulinic acid (delta-ALA)-induced photosensitization?
Porphyria, Acute Intermittent
An autopsy case of acute porphyria with a decrease of both uroporphyrinogen I synthetase and ferrochelatase activities.
Porphyria, Acute Intermittent
Markers for vulnerability in acute porphyria. A hypothesis paper.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Porphyria, Erythropoietic
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
Porphyria, Erythropoietic
QM/MM study of the insertion of metal ion into protoporphyrin IX by ferrochelatase.
Porphyria, Variegate
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases.
Porphyria, Variegate
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
Porphyria, Variegate
Reduced ferrochelatase activity: a defect common to porphyria variegata and protoporphyria.
Porphyria, Variegate
The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts.
Porphyrias
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18.
Porphyrias
Comparison of the effects of griseofulvin and dihydropyridines on ferrochelatase activity and porphyrin accumulation in primary cultures of mouse and rat hepatocytes.
Porphyrias
Effect of decreased ferrochelatase activity on iron and porphyrin content in mitochondria of mice with porphyria induced by griseofulvin.
Porphyrias
Effects of 2-[1-(ethoxyimino)propyl]-3-hydroxy-5-(2,4,6-trimethylphenyl) cyclohex-2-enone on hepatic haem biosynthesis: species differences in hepatic porphyria.
Porphyrias
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
Porphyrias
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage.
Porphyrias
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Porphyrias
Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
Porphyrias
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Porphyrias
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases.
Porphyrias
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
Porphyrias
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.
Porphyrias
Studies on the mechanism of experimental porphyria and ferrochelatase inhibition produced by 3,5-diethoxycarbonyl-1,4-dihydrocollidine.
Porphyrias
[Erythropoietic protoporphyria : Clinical manifestations, diagnosis and new therapeutic possibilities].
Porphyrias, Hepatic
Effects of 2-[1-(ethoxyimino)propyl]-3-hydroxy-5-(2,4,6-trimethylphenyl) cyclohex-2-enone on hepatic haem biosynthesis: species differences in hepatic porphyria.
Porphyrias, Hepatic
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species.
Porphyrias, Hepatic
Toxic effects of griseofulvin: disease models, mechanisms, and risk assessment.
Porphyrias, Hepatic
[Drug risk of hepatic porphyria. Development of an animal experiment model]
Prostatic Neoplasms
The inhibition of ferrochelatase enhances 5-aminolevulinic acid-based photodynamic action for prostate cancer.
Protein Deficiency
Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia.
Protein Deficiency
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
Protein Deficiency
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Protein Deficiency
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
Protein Deficiency
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Protoporphyria, Erythropoietic
A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters.
Protoporphyria, Erythropoietic
A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A bicistronic SIN-lentiviral vector containing G156A MGMT allows selection and metabolic correction of hematopoietic protoporphyric cell lines.
Protoporphyria, Erythropoietic
A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
Protoporphyria, Erythropoietic
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma--reply.
Protoporphyria, Erythropoietic
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
Protoporphyria, Erythropoietic
A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A novel ferrochelatase gene mutation (IVS1-2 A-->C) in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
Protoporphyria, Erythropoietic
A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Amelioration of the metabolic defect in erythropoietic protoporphyria by expression of human ferrochelatase in cultured cells.
Protoporphyria, Erythropoietic
An explorative study of non-invasive ultra-weak photon emission and the anti-oxidative influence of oral zinc sulphate in light-sensitive patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Anaesthetic management of a patient with erythropoietic protoporphyria for ventricular septal defect closure.
Protoporphyria, Erythropoietic
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.
Protoporphyria, Erythropoietic
Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.
Protoporphyria, Erythropoietic
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation.
Protoporphyria, Erythropoietic
Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Protoporphyria, Erythropoietic
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
Protoporphyria, Erythropoietic
Breast cancer resistance protein (Bcrp1/Abcg2) is expressed in the harderian gland and mediates transport of conjugated protoporphyrin IX.
Protoporphyria, Erythropoietic
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Protoporphyria, Erythropoietic
Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report.
Protoporphyria, Erythropoietic
Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury.
Protoporphyria, Erythropoietic
Clinical implications of the molecular biology of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
Protoporphyria, Erythropoietic
Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Protoporphyria, Erythropoietic
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Protoporphyria, Erythropoietic
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase activities in human liver biopsies with special reference to alcoholic liver disease.
Protoporphyria, Erythropoietic
Crystal structure of ferrochelatase: the terminal enzyme in heme biosynthesis.
Protoporphyria, Erythropoietic
Decreased leukocyte ferrochelatase activity in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Different characteristics of ferrochelatase in cultured fibroblasts of erythropoietic protoporphyria patients and normal controls.
Protoporphyria, Erythropoietic
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
Protoporphyria, Erythropoietic
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
Protoporphyria, Erythropoietic
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Protoporphyria, Erythropoietic
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Erythropoietic Protoporphyria (Erythrohepatic Protoporphyria).
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria and early onset of cholestasis.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria and pretransplantation treatment with nonbiological liver assist devices.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.
Protoporphyria, Erythropoietic
Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria: a functional analysis of the leader sequence of human ferrochelatase.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria: a new mutation responsible for exon skipping in the human ferrochelatase gene.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria: evidence that it is due to a variant ferrochelatase.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene.
Protoporphyria, Erythropoietic
Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
Protoporphyria, Erythropoietic
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Exacerbation of erythropoietic protoporphyria by hyperthyroidism.
Protoporphyria, Erythropoietic
Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Excessive erythrocyte ppix influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
Protoporphyria, Erythropoietic
Exonic deletions as a cause of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Ferrochelatase activities in patients with erythropoietic protoporphyria and their families.
Protoporphyria, Erythropoietic
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
Protoporphyria, Erythropoietic
Ferrochelatase Deficiency Abrogated the Enhancement of Aminolevulinic Acid-mediated Protoporphyrin IX by Iron Chelator Deferoxamine.
Protoporphyria, Erythropoietic
Ferrochelatase deficiency in an infant with anemia and growth delay.
Protoporphyria, Erythropoietic
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Protoporphyria, Erythropoietic
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Protoporphyria, Erythropoietic
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.
Protoporphyria, Erythropoietic
Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.
Protoporphyria, Erythropoietic
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the argentinean population.
Protoporphyria, Erythropoietic
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.
Protoporphyria, Erythropoietic
Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families.
Protoporphyria, Erythropoietic
Genetic study in a Singaporean patient with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Protoporphyria, Erythropoietic
Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
Protoporphyria, Erythropoietic
Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.
Protoporphyria, Erythropoietic
Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection.
Protoporphyria, Erythropoietic
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.
Protoporphyria, Erythropoietic
Hemoglobin deficit: an inherited hypochromic anemia in the mouse.
Protoporphyria, Erythropoietic
Hepatic damage and oxidative stress induced by Griseofulvin in mice.
Protoporphyria, Erythropoietic
Hepatic gene expression in protoporphyic Fech mice is associated with cholestatic injury but not a marked depletion of the heme regulatory pool.
Protoporphyria, Erythropoietic
Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
Protoporphyria, Erythropoietic
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
Protoporphyria, Erythropoietic
Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.
Protoporphyria, Erythropoietic
Human protoporphyria: genetic heterogeneity at the ferrochelatase locus.
Protoporphyria, Erythropoietic
Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice.
Protoporphyria, Erythropoietic
Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
Protoporphyria, Erythropoietic
Inactivation of protoporphyrin IX in erythrocytes in patients with erythropoietic protoporphyria: a new treatment modality.
Protoporphyria, Erythropoietic
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Protoporphyria, Erythropoietic
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.
Protoporphyria, Erythropoietic
Induction of hepatic aminolevulinate acid synthetase activity by isoflurane in a genetic model for erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Protoporphyria, Erythropoietic
Inhibition of thioredoxin reductase 1 by porphyrins and other small molecules identified by a high-throughput screening assay.
Protoporphyria, Erythropoietic
Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).
Protoporphyria, Erythropoietic
Iron therapy for hepatic dysfunction in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
Protoporphyria, Erythropoietic
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
Protoporphyria, Erythropoietic
Level of Expression of the Nonmutant Ferrochelatase Allele is a Determinant of Biochemical Phenotype in a Mouse Model of Erythropoietic Protoporphyria.
Protoporphyria, Erythropoietic
Liver disease and erythropoietic protoporphyria: a concise review.
Protoporphyria, Erythropoietic
Liver metabolomics in a mouse model of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Liver pathology and hepatocarcinogenesis in a long-term mouse model of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Liver transplantation for erythropoietic protoporphyria with hepatic failure: a case report.
Protoporphyria, Erythropoietic
Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy.
Protoporphyria, Erythropoietic
Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
Protoporphyria, Erythropoietic
Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria.
Protoporphyria, Erythropoietic
Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.
Protoporphyria, Erythropoietic
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
Protoporphyria, Erythropoietic
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Protoporphyria, Erythropoietic
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
Protoporphyria, Erythropoietic
Molecular analysis of functional and nonfunctional genes for human ferrochelatase: isolation and characterization of a FECH pseudogene and its sublocalization on chromosome 3.
Protoporphyria, Erythropoietic
Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Molecular characterization of erythropoietic protoporphyria in South Africa.
Protoporphyria, Erythropoietic
Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase.
Protoporphyria, Erythropoietic
Molecular defect in human erythropoietic protoporphyria with fatal liver failure.
Protoporphyria, Erythropoietic
Molecular defects in erythropoietic protoporphyria with terminal liver failure.
Protoporphyria, Erythropoietic
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Protoporphyria, Erythropoietic
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
Protoporphyria, Erythropoietic
New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
Protoporphyria, Erythropoietic
Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.
Protoporphyria, Erythropoietic
Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Novel Null-allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria: Erythropoietic Protoporphyria in Argentina.
Protoporphyria, Erythropoietic
Oxidative stress, Nrf2 and keratin upregulation associate with Mallory-Denk body formation in mouse erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy.
Protoporphyria, Erythropoietic
Perioperative management of a bleeding jejunal tumor in a patient with erythropoietic protoporphyria: A case report and literature review.
Protoporphyria, Erythropoietic
Photo(chemo)therapy and general management of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
Protoporphyria, Erythropoietic
Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature.
Protoporphyria, Erythropoietic
Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase.
Protoporphyria, Erythropoietic
Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.
Protoporphyria, Erythropoietic
Protective action of antioxidants on hepatic damage induced by griseofulvin.
Protoporphyria, Erythropoietic
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases.
Protoporphyria, Erythropoietic
Protoporphyrin photosensitivity cannot be attenuated by oral N-acetylcysteine.
Protoporphyria, Erythropoietic
Quantitative analysis of ferrochelatase mRNA in blood cells of erythropoietic protoporphyria patients.
Protoporphyria, Erythropoietic
Recessive inheritance of erythropoietic protoporphyria with liver failure.
Protoporphyria, Erythropoietic
Red blood cell exchange transfusion in two patients with advanced erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.
Protoporphyria, Erythropoietic
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
Protoporphyria, Erythropoietic
Relationship between biliary lipid and protoporphyrin secretion; potential role of mdr2 P-glycoprotein in hepatobiliary organic anion transport.
Protoporphyria, Erythropoietic
Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
Protoporphyria, Erythropoietic
Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats.
Protoporphyria, Erythropoietic
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells.
Protoporphyria, Erythropoietic
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene.
Protoporphyria, Erythropoietic
The effect of griseofulvin on the heme pathway--II. An exhaustive analysis during short and long-term challenge.
Protoporphyria, Erythropoietic
The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
Protoporphyria, Erythropoietic
The value of intravenous heme-albumin and plasmapheresis in reducing postoperative complications of orthotopic liver transplantation for erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
UK experience of liver transplantation for erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.
Protoporphyria, Erythropoietic
Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model.
Protoporphyria, Erythropoietic
Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study.
Protoporphyria, Erythropoietic
Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria.
Protoporphyria, Erythropoietic
[Anesthetic Management under Spinal Anesthesia in a Patient with Erythropoietic Protoporphyria].
Protoporphyria, Erythropoietic
[Cholestatic erythrohepatic protoporphyria: porphyrin metabolism before and after liver transplantation]
Protoporphyria, Erythropoietic
[Contribution of Japanese researchers to progress in the field of hematology in the last 100 years: Porphyria/congenital heme synthetase deficiency]
Protoporphyria, Erythropoietic
[Decreased heme synthetase activity in erythroblasts in two patients with erythropoietic protoporphyria (author's transl)]
Protoporphyria, Erythropoietic
[Erythropoietic protoporphyria : Clinical manifestations, diagnosis and new therapeutic possibilities].
Protoporphyria, Erythropoietic
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms].
Protoporphyria, Erythropoietic
[Homozygote erythropoietic protoporphyria associated with porokeratosis]
protoporphyrin ferrochelatase deficiency
A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria.
protoporphyrin ferrochelatase deficiency
A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I.
protoporphyrin ferrochelatase deficiency
A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency.
protoporphyrin ferrochelatase deficiency
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
protoporphyrin ferrochelatase deficiency
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.
protoporphyrin ferrochelatase deficiency
Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein.
protoporphyrin ferrochelatase deficiency
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Assessment of in vitro and in vivo mitochondrial function in Friedreich's ataxia and Huntington's disease.
protoporphyrin ferrochelatase deficiency
Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids.
protoporphyrin ferrochelatase deficiency
Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.
protoporphyrin ferrochelatase deficiency
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
protoporphyrin ferrochelatase deficiency
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.
protoporphyrin ferrochelatase deficiency
Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice.
protoporphyrin ferrochelatase deficiency
Calpain-Inhibitors Protect Frataxin-Deficient Dorsal Root Ganglia Neurons from Loss of Mitochondrial Na+/Ca2+ Exchanger, NCLX, and Apoptosis.
protoporphyrin ferrochelatase deficiency
Can Telomere Shortening in Human Peripheral Blood Leukocytes Serve as a Disease Biomarker of Friedreich's Ataxia?
protoporphyrin ferrochelatase deficiency
Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.
protoporphyrin ferrochelatase deficiency
Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.
protoporphyrin ferrochelatase deficiency
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
protoporphyrin ferrochelatase deficiency
Changes in mitochondrial glutathione levels and protein thiol oxidation in ?yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.
protoporphyrin ferrochelatase deficiency
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
protoporphyrin ferrochelatase deficiency
Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Correction: Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
protoporphyrin ferrochelatase deficiency
Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.
protoporphyrin ferrochelatase deficiency
Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich's ataxia model mice.
protoporphyrin ferrochelatase deficiency
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
protoporphyrin ferrochelatase deficiency
DNA repair pathways are altered in neural cell models of frataxin deficiency.
protoporphyrin ferrochelatase deficiency
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.
protoporphyrin ferrochelatase deficiency
Drosophila melanogaster Models of Friedreich's Ataxia.
protoporphyrin ferrochelatase deficiency
Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.
protoporphyrin ferrochelatase deficiency
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
protoporphyrin ferrochelatase deficiency
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.
protoporphyrin ferrochelatase deficiency
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?
protoporphyrin ferrochelatase deficiency
Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study.
protoporphyrin ferrochelatase deficiency
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Ferrochelatase Deficiency Abrogated the Enhancement of Aminolevulinic Acid-mediated Protoporphyrin IX by Iron Chelator Deferoxamine.
protoporphyrin ferrochelatase deficiency
Ferrochelatase deficiency in an infant with anemia and growth delay.
protoporphyrin ferrochelatase deficiency
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
protoporphyrin ferrochelatase deficiency
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
protoporphyrin ferrochelatase deficiency
Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.
protoporphyrin ferrochelatase deficiency
Frataxin and frataxin deficiency in Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Frataxin and mitochondrial FeS cluster biogenesis.
protoporphyrin ferrochelatase deficiency
Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency and mitochondrial dysfunction.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency induces Schwann cell inflammation and death.
protoporphyrin ferrochelatase deficiency
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model.
protoporphyrin ferrochelatase deficiency
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.
protoporphyrin ferrochelatase deficiency
Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34.
protoporphyrin ferrochelatase deficiency
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.
protoporphyrin ferrochelatase deficiency
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.
protoporphyrin ferrochelatase deficiency
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
protoporphyrin ferrochelatase deficiency
Frataxin Is Localized to Both the Chloroplast and Mitochondrion and Is Involved in Chloroplast Fe-S Protein Function in Arabidopsis.
protoporphyrin ferrochelatase deficiency
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
protoporphyrin ferrochelatase deficiency
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
protoporphyrin ferrochelatase deficiency
Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.
protoporphyrin ferrochelatase deficiency
Friedreich ataxia: an update on animal models, frataxin function and therapies.
protoporphyrin ferrochelatase deficiency
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
protoporphyrin ferrochelatase deficiency
Friedreich Ataxia: Developmental Failure of the Dorsal Root Entry Zone.
protoporphyrin ferrochelatase deficiency
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
protoporphyrin ferrochelatase deficiency
Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
protoporphyrin ferrochelatase deficiency
Friedreich's Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
protoporphyrin ferrochelatase deficiency
Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?
protoporphyrin ferrochelatase deficiency
Friedreich's ataxia: clinical aspects and pathogenesis.
protoporphyrin ferrochelatase deficiency
Friedreich's Ataxia: From the (GAA)( n ) Repeat Mediated Silencing to New Promising Molecules for Therapy.
protoporphyrin ferrochelatase deficiency
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics.
protoporphyrin ferrochelatase deficiency
Friedreich's ataxia: the vicious circle hypothesis revisited.
protoporphyrin ferrochelatase deficiency
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector.
protoporphyrin ferrochelatase deficiency
Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.
protoporphyrin ferrochelatase deficiency
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models.
protoporphyrin ferrochelatase deficiency
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
protoporphyrin ferrochelatase deficiency
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.
protoporphyrin ferrochelatase deficiency
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells.
protoporphyrin ferrochelatase deficiency
Hemoglobin deficit: an inherited hypochromic anemia in the mouse.
protoporphyrin ferrochelatase deficiency
Hepatic damage and oxidative stress induced by Griseofulvin in mice.
protoporphyrin ferrochelatase deficiency
Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia.
protoporphyrin ferrochelatase deficiency
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice.
protoporphyrin ferrochelatase deficiency
Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
protoporphyrin ferrochelatase deficiency
Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Upregulate Frataxin During In Vitro Differentiation to Peripheral Sensory Neurons.
protoporphyrin ferrochelatase deficiency
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
protoporphyrin ferrochelatase deficiency
Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
protoporphyrin ferrochelatase deficiency
Iron metabolism and mitochondrial abnormalities in Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Iron metabolism in mice with partial frataxin deficiency.
protoporphyrin ferrochelatase deficiency
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
protoporphyrin ferrochelatase deficiency
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
protoporphyrin ferrochelatase deficiency
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Iron-Starvation-Induced Mitophagy Mediates Lifespan Extension upon Mitochondrial Stress in C. elegans.
protoporphyrin ferrochelatase deficiency
Iron-sulfur protein maturation in human cells: evidence for a function of frataxin.
protoporphyrin ferrochelatase deficiency
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
protoporphyrin ferrochelatase deficiency
Low frataxin mRNA expression is associated with inflammation and oxidative stress in patients with type 2 diabetes.
protoporphyrin ferrochelatase deficiency
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
protoporphyrin ferrochelatase deficiency
Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells.
protoporphyrin ferrochelatase deficiency
Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.
protoporphyrin ferrochelatase deficiency
Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin-deficient strain.
protoporphyrin ferrochelatase deficiency
Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
protoporphyrin ferrochelatase deficiency
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
protoporphyrin ferrochelatase deficiency
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
protoporphyrin ferrochelatase deficiency
Mitochondrial iron and calcium homeostasis in Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
protoporphyrin ferrochelatase deficiency
Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei.
protoporphyrin ferrochelatase deficiency
Mitochondrial pathophysiology in Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Molecular and Functional Alterations in a Mouse Cardiac Model of Friedreich Ataxia: Activation of the Integrated Stress Response, eIF2? Phosphorylation, and the Induction of Downstream Targets.
protoporphyrin ferrochelatase deficiency
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
protoporphyrin ferrochelatase deficiency
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
protoporphyrin ferrochelatase deficiency
Movement disorders: Targeted RNA or BDNF gene transfer protects against frataxin deficiency.
protoporphyrin ferrochelatase deficiency
Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria.
protoporphyrin ferrochelatase deficiency
Neurobehavioral deficits in the KIKO mouse model of Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
protoporphyrin ferrochelatase deficiency
Nitric oxide accumulation is required to protect against iron-mediated oxidative stress in frataxin-deficient Arabidopsis plants.
protoporphyrin ferrochelatase deficiency
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells.
protoporphyrin ferrochelatase deficiency
Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells.
protoporphyrin ferrochelatase deficiency
Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich's Ataxia: Clues of an "Out-Brain Origin" of the Disease From a Family Study.
protoporphyrin ferrochelatase deficiency
OVEREXPRESSION OF MITOCHONDRIAL FERRITIN SENSITIZES CELLS TO OXIDATIVE STRESS VIA AN IRON-MEDIATED MECHANISM.
protoporphyrin ferrochelatase deficiency
Oxidative stress and altered lipid metabolism in Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Oxidative stress modulates rearrangement of endoplasmic reticulum-mitochondria contacts and calcium dysregulation in a Friedreich's ataxia model.
protoporphyrin ferrochelatase deficiency
Oxidative stress-dependent frataxin inhibition mediated alcoholic hepatocytotoxicity through ferroptosis.
protoporphyrin ferrochelatase deficiency
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model.
protoporphyrin ferrochelatase deficiency
Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature.
protoporphyrin ferrochelatase deficiency
Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria.
protoporphyrin ferrochelatase deficiency
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
protoporphyrin ferrochelatase deficiency
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia.
protoporphyrin ferrochelatase deficiency
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
protoporphyrin ferrochelatase deficiency
Progress in understanding Friedreich's ataxia using human induced pluripotent stem cells.
protoporphyrin ferrochelatase deficiency
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.
protoporphyrin ferrochelatase deficiency
Protective action of antioxidants on hepatic damage induced by griseofulvin.
protoporphyrin ferrochelatase deficiency
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
protoporphyrin ferrochelatase deficiency
Recessive inheritance of erythropoietic protoporphyria with liver failure.
protoporphyrin ferrochelatase deficiency
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
protoporphyrin ferrochelatase deficiency
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant.
protoporphyrin ferrochelatase deficiency
Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Relationship between biliary lipid and protoporphyrin secretion; potential role of mdr2 P-glycoprotein in hepatobiliary organic anion transport.
protoporphyrin ferrochelatase deficiency
Restless legs syndrome in Friedreich ataxia: A polysomnographic study.
protoporphyrin ferrochelatase deficiency
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
protoporphyrin ferrochelatase deficiency
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
protoporphyrin ferrochelatase deficiency
Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats.
protoporphyrin ferrochelatase deficiency
Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
protoporphyrin ferrochelatase deficiency
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.
protoporphyrin ferrochelatase deficiency
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
protoporphyrin ferrochelatase deficiency
Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells.
protoporphyrin ferrochelatase deficiency
The chemical form of mitochondrial iron in Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins.
protoporphyrin ferrochelatase deficiency
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin.
protoporphyrin ferrochelatase deficiency
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
protoporphyrin ferrochelatase deficiency
The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S biogenesis in Escherichia coli.
protoporphyrin ferrochelatase deficiency
The mitochondrial protein frataxin is essential for heme biosynthesis in plants.
protoporphyrin ferrochelatase deficiency
The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy.
protoporphyrin ferrochelatase deficiency
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
protoporphyrin ferrochelatase deficiency
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
protoporphyrin ferrochelatase deficiency
Unveiling a common mechanism of apoptosis in ?-cells and neurons in Friedreich's ataxia.
protoporphyrin ferrochelatase deficiency
Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model.
protoporphyrin ferrochelatase deficiency
[Cholestatic erythrohepatic protoporphyria: porphyrin metabolism before and after liver transplantation]
protoporphyrin ferrochelatase deficiency
[Contribution of Japanese researchers to progress in the field of hematology in the last 100 years: Porphyria/congenital heme synthetase deficiency]
Retinal Degeneration
[Distribution of frataxin in eye retina of normal mice and of transgenic R7E mice with retinal degeneration]
Scoliosis
[Peridural anaesthesia with ropivacaine for a patient with Friedrich's ataxia. Caesarean section after dorsal stabilisation of the spinal column (Th5-L1)]
Skin Neoplasms
Vitamin D3 enhances the apoptotic response of epithelial tumors to aminolevulinate-based photodynamic therapy.
Spinocerebellar Ataxias
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
Spinocerebellar Ataxias
Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.
Spinocerebellar Ataxias
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.
Spinocerebellar Ataxias
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
Spinocerebellar Degenerations
Backbone resonance assignments and secondary structure of the apo-Drosophila melanogaster frataxin homolog (Dfh).
Spinocerebellar Degenerations
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.
Spinocerebellar Degenerations
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
Spinocerebellar Degenerations
Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
Spinocerebellar Degenerations
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Spinocerebellar Degenerations
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.
Starvation
Cells lacking pfh1, a fission yeast homolog of mammalian frataxin protein, display constitutive activation of the iron starvation response.
Starvation
Iron-Starvation-Induced Mitophagy Mediates Lifespan Extension upon Mitochondrial Stress in C. elegans.
Strongyloidiasis
Identification of a Bacteria-Like Ferrochelatase in Strongyloides venezuelensis, an Animal Parasitic Nematode.
Uremia
Evaluation of iron status in patients on chronic hemodialysis: relative usefulness of bone marrow hemosiderin, serum ferritin, transferrin saturation, mean corpuscular volume and red cell protoporphyrin.
Urinary Bladder Neoplasms
Expression of ferrochelatase has a strong correlation in protoporphyrin IX accumulation with photodynamic detection of bladder cancer.
Vitamin E Deficiency
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Vitamin E Deficiency
Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction.
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