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Disease on EC 4.98.1.1 - protoporphyrin ferrochelatase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.
Ferrochelatase deficiency in an infant with anemia and growth delay.
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Heme synthesis in anemia of the uremic state.
Hemoglobin deficit: an inherited hypochromic anemia in the mouse.
Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts.
Porphyrin synthesis and heme synthetase activity in pyridoxine-responsive anemia.
Some biochemical changes in heme synthesis in iron deficiency.
[The measurement of erythrocyte zinc protoporphyrin/heme ratio in various anemias in childhood]
Anemia, Hemolytic
[Ferrochelatase gene expression in erythroid cells]
Anemia, Hypochromic
Ferrochelatase deficiency in an infant with anemia and growth delay.
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Anemia, Iron-Deficiency
Some biochemical changes in heme synthesis in iron deficiency.
Anemia, Refractory
Absence of frataxin mutations in refractory anemia with ring sideroblasts (RARS).
Anemia, Sideroblastic
Abnormal haem biosynthesis in chronic alcoholics.
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Heme synthetase activity in normal human and rat erythroid cells and in sideroblastic anemia.
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
[Genetics of hereditary iron overload]
Apraxias
Autosomal recessive cerebellar ataxias.
Arthritis, Rheumatoid
[New aspects in the pathogenesis of anemia in chronic polyarthritis]
Ataxia
3-Nitropropionic acid increases frataxin expression in human lymphoblasts and in transgenic rat PC12 cells.
A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.
A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis.
A pool of extramitochondrial frataxin that promotes cell survival.
A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.
Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus.
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Autosomal recessive cerebellar ataxias.
Cardiomyopathy in friedreich ataxia: clinical findings and research.
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
Clinical heterogeneity of recessive ataxia in the Mexican population.
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.
Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia.
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.
Crystal structure of human frataxin.
Deciphering the cause of Friedreich ataxia.
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia.
DNA triplexes and Friedreich ataxia.
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.
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.
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Erythrocyte protoporphyrin levels in patients with Friedreich's and other ataxias.
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Frataxin is essential for extramitochondrial Fe S cluster proteins in mammalian tissues.
Frataxin levels in peripheral tissue in Friedreich ataxia.
Frataxin overexpressing mice.
Friedreich ataxia (FA) associated with diabetes mellitus type 1 and hyperthrophic cardiomyopathy.
Friedreich's ataxia (FA) associated with diabetes mellitus type 1 and hypertrophic cardiomyopathy: analysis of a FA family.
Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction.
Friedreich's Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
Genes involved in hereditary ataxias.
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's 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.
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region.
Iron-Starvation-Induced Mitophagy Mediates Lifespan Extension upon Mitochondrial Stress in C. elegans.
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.
miR-886-3p levels are elevated in Friedreich ataxia.
Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants.
Molecular genetics and pathogenesis of Friedreich ataxia.
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Molecular pathogenesis of Friedreich ataxia.
MutL? heterodimers modify the molecular phenotype of Friedreich ataxia.
Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.
Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia.
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia.
Rapamycin reduces oxidative stress in frataxin-deficient yeast cells.
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Rare causes of hereditary iron overload.
Recent advances in the molecular pathogenesis of Friedreich ataxia.
Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans.
Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy.
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich 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.
The roles of SbcCD and RNaseE in the transcription of GAA.TTC repeats in Escherichia coli.
The transcriptional regulator CCCTC-binding factor limits oxidative stress in endothelial cells.
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins.
TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia.
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model.
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
Variations of frataxin protein levels in normal individuals.
[Mitochondrial DNA mutations and three major forms of mitochondrial myopathies: CPEO, MELAS and MERRF]
[Molecular genetic diagnosis of Friedreich's ataxia. Ten years experience based on blood sample analysis].
Blindness
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Breast Neoplasms
Effects of Silencing Heme Biosynthesis Enzymes on 5-Aminolevulinic Acid-mediated Protoporphyrin IX Fluorescence and Photodynamic Therapy.
Involvement of protoporphyrin IX accumulation in the pathogenesis of isoniazid/rifampicin-induced liver injury: the prevention of curcumin.
Carcinogenesis
Characterization of human frataxin missense variants in cancer tissues.
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.
Cisplatin may induce frataxin expression.
Frataxin deficiency and mitochondrial dysfunction.
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
Silencing of human ferrochelatase causes abundant protoporphyrin-IX accumulation in colon cancer.
Carcinoma, Hepatocellular
Differential interaction of porphyrins used in photoradiation therapy with ferrochelatase.
Heme-biosynthetic enzyme activities and porphyrin accumulation in normal liver and hepatoma cell lines of rat.
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.
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
Monitoring cardiac function during idebenone therapy in Friedreich's 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.
The role of frataxin in doxorubicin-mediated cardiac hypertrophy.
Cardiomyopathies
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro.
A pool of extramitochondrial frataxin that promotes cell survival.
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats.
Assembly of the iron-binding protein frataxin in Saccharomyces cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level.
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.
Clinical monitoring in a patient with friedreich ataxia and osteogenic sarcoma.
Crystal structure of human frataxin.
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Iron metabolism in mice with partial frataxin deficiency.
Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region.
Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia.
Marked variation in the cardiomyopathy associated with Friedreich's ataxia.
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Mitochondrial Fe-S cluster biogenesis, frataxin and the modulation of susceptibility to drug-induced cardiomyopathy.
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
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.
Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
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.
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.
Small molecules affecting transcription in Friedreich ataxia.
The in vivo mitochondrial two-step maturation of human frataxin.
The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation.
The pathogenesis of cardiomyopathy in friedreich ataxia.
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.
[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.
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.
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy.
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.
The potential of the novel NAD+ supplementing agent, SNH6, as a therapeutic strategy for the treatment of Friedreich's ataxia.
[The best in 2000 on pediatric cardiology]
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.
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.
DNA repair in trinucleotide repeat ataxias.
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.
Neurophysiologic studies in early-onset cerebellar ataxia.
Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model.
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.
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.
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited.
Loss of ferrochelatase is protective against colon cancer cells: ferrochelatase a possible regulator of the long noncoding RNA H19.
Silencing of human ferrochelatase causes abundant protoporphyrin-IX accumulation in colon cancer.
Confusion
The in vivo mitochondrial two-step maturation of human frataxin.
Coproporphyria, Hereditary
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
The porphyrias.
Death, Sudden, Cardiac
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Demyelinating Diseases
Frataxin deficiency induces Schwann cell inflammation and death.
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.
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.
Tracking cancer drugs in living cells by thermal profiling of the proteome.
Diabetes Mellitus
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Crystal structure of human frataxin.
Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 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.
An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene.
Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 Diabetes Mellitus.
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
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.
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
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.
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.
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
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.
A Dynamic Model of the Proteins that Form the Initial Iron-Sulfur Cluster Biogenesis Machinery in Yeast Mitochondria.
A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.
A gene expression phenotype in lymphocytes from Friedreich ataxia patients.
A helix-coil transition induced by the metal ion interaction with a grafted iron-binding site of the CyaY protein family.
A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels.
A high-throughput assay for frataxin allows for newborn screening, diagnosis, and treatment monitoring of friedreich ataxia.
A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia.
A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.
A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia.
A non-essential function for yeast frataxin in iron-sulfur cluster assembly.
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.
A novel solution-gated graphene transistor biosensor for ultrasensitive detection of trinucleotide repeats.
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro.
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.
A pool of extramitochondrial frataxin that promotes cell survival.
A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins.
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.
A review of friedreich ataxia clinical trial results.
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I.
A role for p53 in mitochondrial stress response control of longevity in C. elegans.
A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.
A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model.
Acidic residues of yeast frataxin have an essential role in Fe-S cluster assembly.
Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.
Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion.
Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat.
Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats.
Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene.
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
Aluminum induces neurodegeneration and its toxicity arises from increased iron accumulation and reactive oxygen species (ROS) production.
An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models.
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels.
Analyzing the Effects of a G137V Mutation in the FXN Gene.
Ancestral roles of eukaryotic frataxin: mitochondrial frataxin function and heterologous expression of hydrogenosomal Trichomonas homologues in trypanosomes.
Ancient repeated DNA elements and the regulation of the human frataxin promoter.
Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.
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.
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.
Assembly of the iron-binding protein frataxin in Saccharomyces cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level.
Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia.
Assignment of the 1H, 15N, and 13C resonances of the C-terminal domain of frataxin, the protein responsible for Friedreich ataxia.
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia.
Autophagy induction extends lifespan and reduces lipid content in response to frataxin silencing in C. elegans.
Autosomal recessive cerebellar ataxias.
Autosomal-recessive cerebellar ataxias.
Backbone resonance assignments and secondary structure of the apo-Drosophila melanogaster frataxin homolog (Dfh).
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
Binding of yeast frataxin to the scaffold for Fe-S cluster biogenesis, Isu.
Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin.
Biogenesis of the yeast frataxin homolog Yfh1p. Tim44-dependent transfer to mtHsp70 facilitates folding of newly imported proteins in mitochondria.
Biophysical characterisation of the recombinant human frataxin precursor.
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.
Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice.
Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia.
Calpain-Inhibitors Protect Frataxin-Deficient Dorsal Root Ganglia Neurons from Loss of Mitochondrial Na+/Ca2+ Exchanger, NCLX, and Apoptosis.
Can Telomere Shortening in Human Peripheral Blood Leukocytes Serve as a Disease Biomarker of Friedreich's Ataxia?
Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor.
Cardiomyopathy in friedreich ataxia: clinical findings and research.
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Cells lacking pfh1, a fission yeast homolog of mammalian frataxin protein, display constitutive activation of the iron starvation response.
Central role and mechanisms of ?-cell dysfunction and death in friedreich ataxia-associated diabetes.
Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.
Cerebello-cerebral connectivity deficits in Friedreich ataxia.
Changes in mitochondrial glutathione levels and protein thiol oxidation in ?yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.
Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.
Characterization of frataxin gene network in Friedreich's ataxia fibroblasts using the RNA-Seq technique.
Characterization of human frataxin missense variants in cancer tissues.
Chemical shift assignment of a thermophile frataxin.
Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels.
Cisplatin may induce frataxin expression.
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.
Clinical and genetic study of Friedreich ataxia in an Australian population.
Clinical heterogeneity of recessive ataxia in the Mexican population.
Clinical monitoring in a patient with friedreich ataxia and osteogenic sarcoma.
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's 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.
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia.
Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Correction to Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells.
Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia.
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia.
Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family.
Crystal structure of human frataxin.
Deciphering the cause of Friedreich ataxia.
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.
Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.
Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.
Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia.
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia.
Deferiprone for the treatment of Friedreich's 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.
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.
dfh is a Drosophila homolog of the Friedreich's ataxia disease gene.
Diabetes in Friedreich ataxia.
Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup.
Diagnosis and treatment of Friedreich ataxia: a European perspective.
Differential expression of PGC-1? and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.
Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.
Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland.
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.
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
DNA repair pathways are altered in neural cell models of frataxin deficiency.
DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia.
DNA triplex structures in neurodegenerative disorder, Friedreich's ataxia.
DNA triplexes and Friedreich ataxia.
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.
Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly.
Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia.
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Dynamics, stability and iron-binding activity of frataxin clinical mutants.
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia.
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member.
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Effect of diazoxide on Friedreich ataxia models.
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.
Effector Role Reversal during Evolution: The Case of Frataxin in Fe-S Cluster Biosynthesis.
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.
Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability.
Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells.
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.
Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression.
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
Epigenetic-based therapies for Friedreich ataxia.
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit.
Erratum: Selected missense mutations impair frataxin processing in 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.
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?
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.
Erythropoietin in Friedreich ataxia.
Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial.
Evaluation of an FRDA-EGFP genomic reporter assay in transgenic mice.
Evaluation of antibodies for western blot analysis of frataxin protein isoforms.
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich's ataxia.
Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes.
Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.
Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies.
Expression of human frataxin is regulated by transcription factors SRF and TFAP2.
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
FAST-1 antisense RNA epigenetically alters FXN expression.
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia.
Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.
Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.
Frataxin and frataxin deficiency in Friedreich's ataxia.
Frataxin and mitochondrial FeS cluster biogenesis.
Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia.
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
Frataxin deficiency and mitochondrial dysfunction.
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Frataxin deficiency induces Schwann cell inflammation and death.
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model.
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34.
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.
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.
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.
Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons.
Frataxin gene of Friedreich's ataxia is targeted to mitochondria.
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
Frataxin interacts with Isu1 through a conserved tryptophan in its beta-sheet.
Frataxin is essential for extramitochondrial Fe S cluster proteins in mammalian tissues.
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity.
Frataxin knockin mouse.
Frataxin levels in peripheral tissue in Friedreich ataxia.
Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation.
Frataxin overexpressing mice.
Frataxin participates to the hypoxia-induced response in tumors.
Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.
Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro.
Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.
Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
Frataxin Structure and Function.
Frataxin, iron-sulfur clusters, heme, ROS, and aging.
Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria.
Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase.
Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment.
Frataxin: a protein in search for a function.
Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia.
Frataxins Emerge as New Players of the Intracellular Antioxidant Machinery.
Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.
Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.
Friedreich ataxia: a paradigm for mitochondrial diseases.
Friedreich ataxia: an update on animal models, frataxin function and therapies.
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations.
Friedreich Ataxia: Developmental Failure of the Dorsal Root Entry Zone.
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
Friedreich ataxia: neuropathology revised.
Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA?TTC Triplet Repeat Instability.
Friedreich's Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
Friedreich's Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron-Sulfur Cluster Assembly Complex.
Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.
Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?
Friedreich's ataxia--a case of aberrant transcription termination?
Friedreich's ataxia.
Friedreich's ataxia: clinical aspects and pathogenesis.
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
Friedreich's Ataxia: From the (GAA)( n ) Repeat Mediated Silencing to New Promising Molecules for Therapy.
Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities.
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics.
Friedreich's ataxia: the vicious circle hypothesis revisited.
Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin.
Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector.
Functional studies of frataxin.
FXN GAA repeat expansions in amyotrophic lateral sclerosis.
Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration.
Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients.
Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency.
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.
Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.
Genes involved in hereditary ataxias.
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.
Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia.
Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase.
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
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.
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFN? administration in FRDA patients.
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia.
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models.
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells.
Hereditary causes of disturbed iron homeostasis in the central nervous system.
Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation.
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.
Heterologous mitochondrial targeting sequences can deliver functional proteins into mitochondria.
Heterotrifunctional Chemical Cross-Linking Mass Spectrometry Confirms Physical Interaction between Human Frataxin and ISU.
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
High-throughput immunoassay for the biochemical diagnosis of friedreich ataxia in dried blood spots and whole blood.
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells.
His86 from the N-Terminus of Frataxin Coordinates Iron and Is Required for Fe-S Cluster Synthesis.
HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia.
HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis.
Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.
Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis.
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for 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.
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
Identification of a novel missense mutation in Friedreich's ataxia -FXNW168R.
Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia.
Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia.
Identification of telomere dysfunction in Friedreich ataxia.
IFN-? for Friedreich ataxia: present evidence.
Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia.
Impaired respiration is positively correlated with decreased life span in Caenorhabditis elegans models of Friedreich Ataxia.
Improved Histone Deacetylase Inhibitors as Therapeutics for the Neurodegenerative Disease Friedreich's Ataxia: A New Synthetic Route.
In Vitro interaction between yeast frataxin and superoxide dismutases: Influence of mitochondrial metals.
In vivo maturation of human frataxin.
In vivo survival and differentiation of Friedreich ataxia iPSC-derived sensory neurons transplanted in the adult dorsal root ganglia.
Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag.
Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia.
Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Upregulate Frataxin During In Vitro Differentiation to Peripheral Sensory Neurons.
Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.
Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.
Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.
Insertion mutants in Drosophila melanogaster Hsc20 halt larval growth and lead to reduced iron-sulfur cluster enzyme activities and impaired iron homeostasis.
Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells.
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich's ataxia.
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.
Iron and Friedreich ataxia.
Iron binding and oxidation kinetics in frataxin CyaY of Escherichia coli.
Iron metabolism in mice with partial frataxin deficiency.
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
Iron trafficking in the mitochondrion: novel pathways revealed by disease.
Iron-binding activity in yeast frataxin entails a trade off with stability in the alpha1/beta1 acidic ridge region.
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
Iron-induced oligomerization of human FXN81-210 and bacterial CyaY frataxin and the effect of iron chelators.
Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo.
Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia.
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
Knockout of frataxin gene causes embryo lethality in Arabidopsis.
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.
Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.
Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich's ataxia.
Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
Liver Growth Factor (LGF) Upregulates Frataxin Protein Expression and Reduces Oxidative Stress in Friedreich's Ataxia Transgenic Mice.
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation.
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia.
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals.
Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia.
Malaysian siblings with friedreich ataxia and chorea: a novel deletion in the frataxin gene.
Mammalian frataxin controls sulfur production and iron entry during de novo Fe4S4 cluster assembly.
Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols.
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia.
Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
Marked variation in the cardiomyopathy associated with Friedreich's ataxia.
Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene.
Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
Mechanism of Action of 2-Aminobenzamide HDAC Inhibitors in Reversing Gene Silencing in Friedreich's Ataxia.
Mechanism of activation of the human cysteine desulfurase complex by frataxin.
Mechanism of frataxin "bypass" in human iron-sulfur cluster biosynthesis with implications for Friedreich's ataxia.
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Mechanisms of iron and copper-frataxin interactions.
Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells.
Mesenchymal stem cells restore frataxin expression and increase hydrogen peroxide scavenging enzymes in Friedreich ataxia fibroblasts.
Metabolic remodeling in frataxin-deficient yeast is mediated by Cth2 and Adr1.
Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.
miR-886-3p levels are elevated in Friedreich ataxia.
Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
Mitochondria and degenerative disorders.
Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants.
Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Mitochondrial disease.
Mitochondrial dysfunction in neurodegenerative diseases.
Mitochondrial dysfunction in neurons in Friedreich's ataxia.
Mitochondrial ferritin in neurodegenerative diseases.
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae.
Mitochondrial impairment of human muscle in Friedreich ataxia in vivo.
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Mitochondrial iron and calcium homeostasis in Friedreich ataxia.
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei.
Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.
Molecular analysis of Friedreich's ataxia locus in the Indian population.
Molecular and Cellular Substrates for the Friedreich Ataxia. Significance of Contactin Expression and of Antioxidant Administration.
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.
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
Molecular genetics and pathogenesis of Friedreich ataxia.
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Molecular pathogenesis of Friedreich ataxia.
Monitoring cardiac function during idebenone therapy in Friedreich's ataxia.
Monomeric yeast frataxin is an iron-binding protein.
Mrs3p, mrs4p, and frataxin provide iron for Fe-S cluster synthesis in mitochondria.
Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis.
Multicellular models of Friedreich ataxia.
Mutation in the Fe-S scaffold protein Isu bypasses frataxin deletion.
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.
MutL? heterodimers modify the molecular phenotype of Friedreich ataxia.
Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy.
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.
Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial.
Neurophysiologic studies in early-onset cerebellar ataxia.
New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
New developments in pharmacotherapy for Friedreich ataxia.
Nitric oxide prevents Aft1 activation and metabolic remodeling in frataxin-deficient yeast.
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells.
Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly.
Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.
North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion.
Novel aberrant genetic and epigenetic events in Friedreich's ataxia.
Novel antibody-based strategies for the rapid diagnosis of mitochondrial disease and dysfunction.
Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia.
Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.
Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells.
Oligomerization propensity and flexibility of yeast frataxin studied by X-ray crystallography and small-angle X-ray scattering.
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.
Open-label pilot study of interferon gamma-1b in Friedreich ataxia.
Origin and instability of GAA repeats: insights from Alu elements.
Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila.
Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.
Overexpression of the yeast frataxin homolog (Yfh1): contrasting effects on iron-sulfur cluster assembly, heme synthesis and resistance to oxidative stress.
Oxidative stress and altered lipid metabolism in Friedreich ataxia.
p53/CEP-1 Increases or Decreases Lifespan, Depending on Level of Mitochondrial Bioenergetic Stress.
Particle-mediated delivery of frataxin plasmid to a human sensory neuronal model of Friedreich's ataxia.
Pathophysiology of the optic neuropathy associated with Friedreich ataxia.
Peptide nucleic acid (PNA) binding and its effect on in vitro transcription in friedreich's ataxia triplet repeats.
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia.
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich's ataxia cells.
Phosphorus-31 two-dimensional chemical shift imaging in the myocardium of patients with late onset of Friedreich ataxia.
Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.
Physiologically relevant reconstitution of iron-sulfur cluster biosynthesis uncovers persulfide-processing functions of ferredoxin-2 and frataxin.
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan.
Preventing the ubiquitin-proteasome-dependent degradation of frataxin, the protein defective in Friedreich's ataxia.
Probing the kinetic stabilities of Friedreich's ataxia clinical variants using a solid phase GroEL chaperonin capture platform.
Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein.
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Prospects for the use of artificial chromosomes and minichromosome-like episomes in gene therapy.
Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
Quantitative proteomics in Friedreich's ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia.
Randomized, double-blind, placebo-controlled study of interferon-? 1b in Friedreich Ataxia.
Rapamycin reduces oxidative stress in frataxin-deficient yeast cells.
Rare causes of hereditary iron overload.
Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for friedreich ataxia.
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.
Recent advances in the molecular pathogenesis of Friedreich ataxia.
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.
Recombinant human erythropoietin: effects on frataxin expression in vitro.
Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans.
Reduction in frataxin causes progressive accumulation of mitochondrial damage.
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant.
Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients.
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Review: Iron metabolism and the role of iron in neurodegenerative disorders.
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
Rocuronium for muscle relaxation in two children with Friedreich's ataxia.
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Role of long purine stretches in controlling the expression of genes associated with neurological disorders.
Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.
Selected missense mutations impair frataxin processing in Friedreich ataxia.
Sensitivity of FRDA lymphoblasts to salts of transition metal ions.
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.
Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
Skeletal muscle involvement in friedreich ataxia and potential effects of recombinant human erythropoietin administration on muscle regeneration and neovascularization.
Solution structure of the bacterial frataxin ortholog, CyaY: mapping the iron binding sites.
Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.
Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice.
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
Src inhibitors modulate frataxin protein levels.
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.
Sticky DNA, a long GAA.GAA.TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene.
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription.
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.
Stress-Induced Mouse Model of the Cardiac Manifestations of Friedreich's Ataxia Corrected by AAV-mediated Gene Therapy.
Structural and functional characterization of a frataxin from a thermophilic organism.
Structural bases for the interaction of frataxin with the central components of iron-sulphur cluster assembly.
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
Structure-Function Analysis of Friedreich's Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe-S Assembly Complex.
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV-1 vector.
Synthetic transcription elongation factors license transcription across repressive chromatin.
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.
Targeting lipid peroxidation and mitochondrial imbalance in Friedreich's ataxia.
Targeting the gene in Friedreich ataxia.
The ABC transporter Atm1p is required for mitochondrial iron homeostasis.
The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.
The cerebellar component of Friedreich's ataxia.
The chemical form of mitochondrial iron in Friedreich's ataxia.
The conserved Trp155 in human frataxin as a hotspot for oxidative stress related chemical modifications.
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins.
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients.
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
The factors governing the thermal stability of frataxin orthologues: how to increase a protein's stability.
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
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.
The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia.
The in vivo mitochondrial two-step maturation of human frataxin.
The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia.
The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S biogenesis in Escherichia coli.
The kinetics of folding of frataxin.
The N-terminus of mature human frataxin is intrinsically unfolded.
The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia.
The pathogenesis of Friedreich ataxia and the structure and function of frataxin.
The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly.
The potential of the novel NAD+ supplementing agent, SNH6, as a therapeutic strategy for the treatment of Friedreich's ataxia.
The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion.
The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.
The role of the mitochondrion in cellular iron homeostasis.
The structure and function of frataxin.
The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron.
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins.
The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle.
The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells.
Therapeutic developments in friedreich ataxia.
Therapeutic Prospects for Friedreich's Ataxia.
Therapeutic strategies in Friedreich's ataxia.
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia.
Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin.
Transcription activator-like effector proteins induce the expression of the frataxin gene.
Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures.
Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases.
Translating HDAC inhibitors in Friedreich's ataxia.
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.
Transposon Tn7 preferentially inserts into GAA*TTC triplet repeats under conditions conducive to Y*R*Y triplex formation.
Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia.
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.
Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism.
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model.
Unanswered questions in friedreich ataxia.
Uncommon features in Cuban families affected with Friedreich ataxia.
Understanding the binding properties of an unusual metal-binding protein--a study of bacterial frataxin.
Understanding the frustration arising from the competition between function, misfolding, and aggregation in a globular protein.
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Unexpected formation of parallel duplex in GAA and TTC trinucleotide repeats of Friedreich's ataxia.
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia.
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.
Variations of frataxin protein levels in normal individuals.
Visual system involvement in patients with Friedreich's ataxia.
Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.
Yeast frataxin mutants display decreased superoxide dismutase activity crucial to promote protein oxidative damage.
YFH1-mediated iron homeostasis is independent of mitochondrial respiration.
[A 60-year-old man with intention tremor as an initial symptom followed by cerebellar ataxia, peripheral neuropathy and dementia]
[Genetics of hereditary iron overload]
[Heart involvement in Friedreich's ataxia.]
[Intracellular iron metabolism]
[Production and application of polyclonal antibody against mouse frataxin].
[The best in 2000 on pediatric cardiology]
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.
Amelioration of the metabolic defect in erythropoietic protoporphyria by expression of human ferrochelatase in cultured cells.
An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models.
Assembly of the iron-binding protein frataxin in Saccharomyces cerevisiae responds to dynamic changes in mitochondrial iron influx and stress level.
Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Cells lacking pfh1, a fission yeast homolog of mammalian frataxin protein, display constitutive activation of the iron starvation response.
Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Erythropoietic Protoporphyria (Erythrohepatic Protoporphyria).
Evaluation of antibodies for western blot analysis of frataxin protein isoforms.
Evidence for neurological dysfunction in end-stage protoporphyric liver disease.
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
FAST-1 antisense RNA epigenetically alters FXN expression.
Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.
Inactivation of protoporphyrin IX in erythrocytes in patients with erythropoietic protoporphyria: a new treatment modality.
Liver metabolomics in a mouse model of erythropoietic protoporphyria.
Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy.
Mitochondrial dysfunction in neurons in Friedreich's ataxia.
Modulation of hepatic ferrochelatase activity by dietary manipulation of mitochondrial phospholipid fatty acyl groups.
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
Molecular studies of liver disease in erythropoietic protoporphyria.
Oxidative stress and altered lipid metabolism in Friedreich ataxia.
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy.
Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein.
Red blood cell exchange transfusion in two patients with advanced erythropoietic protoporphyria.
[Anesthetic Management under Spinal Anesthesia in a Patient with Erythropoietic Protoporphyria].
[Genetics of hereditary iron overload]
[Heart involvement in Friedreich's ataxia.]
Glioma
Fluorescence-Guided Resection of Malignant Glioma with 5-ALA.
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
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.
[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.
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Knockout of frataxin gene causes embryo lethality in Arabidopsis.
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
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.
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
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.
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
Hemochromatosis
Iron metabolism in mice with partial frataxin deficiency.
Splice variants: a homology modeling approach.
[Current data on iron metabolism]
Hepatolenticular Degeneration
Mitochondria and degenerative disorders.
Heredodegenerative Disorders, Nervous System
Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
Mechanisms of iron and copper-frataxin interactions.
Rocuronium for muscle relaxation in two children with Friedreich's ataxia.
SS-31 efficacy in a mouse model of Friedreich ataxia by upregulation of frataxin expression.
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.
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells.
Hypertension, Pulmonary
Frataxin and endothelial cell senescence in pulmonary hypertension.
Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.
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.
Griseofulvin impairs intraerythrocytic growth of Plasmodium falciparum through ferrochelatase inhibition but lacks activity in an experimental human infection study.
Infertility, Male
Mitochondrial disease.
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.
Erythrocyte zinc protoporphyrin.
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.
Loss of mitochondrial localization of human FANCG causes defective FANCJ helicase.
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.
The elevation of blood levels of zinc protoporphyrin in mice following whole body irradiation.
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.
Ferrochelatase deficiency in an infant with anemia and growth delay.
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities.
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Mitochondrial dysfunction in friedreich's ataxia.
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy.
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models.
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Yeast frataxin mutants display decreased superoxide dismutase activity crucial to promote protein oxidative damage.
[Genetics of hereditary iron overload]
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.
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.
Expression of ferrochelatase mRNA in erythroid and non-erythroid cells.
Ferrochelatase forms an oligomeric complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthesis.
Ferrochelatase, glutathione peroxidase and transferrin receptor mRNA synthesis and levels in mouse erythroleukemia cells.
Heme biosynthesis in Friend erythroleukemia cells: control by ferrochelatase.
Induction of terminal enzymes for heme biosynthesis during differentiation of mouse erythroleukemia cells.
Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.
Mechanisms involved in delta-aminolevulinic acid (ALA)-induced photosensitivity of tumor cells: relation of ferrochelatase and uptake of ALA to the accumulation of protoporphyrin.
Molecular cloning, sequencing, and expression of mouse ferrochelatase.
Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.
Regulation of the expression of human ferrochelatase by intracellular iron levels.
Regulation of the ferrochelatase gene expression during differentiation of mouse erythroleukemia cells.
Structure and transcriptional regulation of the mouse ferrochelatase gene.
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.
Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.
Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice.
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Molecular studies of liver disease in erythropoietic protoporphyria.
Oxidative stress, Nrf2 and keratin upregulation associate with Mallory-Denk body formation in mouse erythropoietic protoporphyria.
Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase.
Recessive inheritance of erythropoietic protoporphyria with liver failure.
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.
Clinical implications of the molecular biology of erythropoietic protoporphyria.
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.
Macular Degeneration
Mitochondrial ferritin in neurodegenerative diseases.
Malaria
Malaria parasite-synthesized heme is essential in the mosquito and liver stages and complements host heme in the blood stages of infection.
Proteobacteria-like ferrochelatase in the malaria parasite.
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.
[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.
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia.
Friedreich's ataxia: treatment within reach.
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Mechanisms of impaired mitochondrial homeostasis and NAD+ metabolism in a model of mitochondrial heart disease exhibiting redox active iron accumulation.
Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives.
Mitochondrial dysfunction in neurons in Friedreich's ataxia.
Review: Iron metabolism and the role of iron in neurodegenerative disorders.
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.
The Heart in Friedreich's Ataxia: Basic Findings and Clinical Implications.
Visual system involvement in patients with Friedreich's ataxia.
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.
Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.
Movement disorders: Targeted RNA or BDNF gene transfer protects against frataxin deficiency.
Multiple System Atrophy
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
Muscle Spasticity
Mitochondria and degenerative disorders.
Muscle Weakness
Long-term voluntary running prevents the onset of symptomatic Friedreich's ataxia in mice.
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
[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.
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.
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?
Alectinib treatment improves photodynamic therapy in cancer cell lines of different origin.
Cell-type specific protoporphyrin IX metabolism in human bladder cancer in vitro.
Characterization of human frataxin missense variants in cancer tissues.
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Differential interaction of porphyrins used in photoradiation therapy with ferrochelatase.
Dual role of the mitochondrial protein frataxin in astrocytic tumors.
Efficacy of 5-Aminolevulinic Acid in Photodynamic Detection and Photodynamic Therapy in Veterinary Medicine.
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Ferrochelatase, a novel target for photodynamic therapy of cancer.
Ferrochelatase, ALA-dehydrase and ALA-synthetase activity in human tumour tissue.
Frataxin participates to the hypoxia-induced response in tumors.
Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro.
Histone deacetylase inhibitors modulating non-epigenetic players: The novel molecular targets for therapeutic intervention.
In vivo tumor growth is inhibited by cytosolic iron deprivation caused by the expression of mitochondrial ferritin.
Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited.
Iron chelation promotes 5-aminolaevulinic acid-based photodynamic therapy against oral tongue squamous cell carcinoma.
Low frataxin mRNA expression is associated with inflammation and oxidative stress in patients with type 2 diabetes.
Mechanism of cell death by 5-aminolevulinic acid-based photodynamic action and its enhancement by ferrochelatase inhibitors in human histiocytic lymphoma cell line U937.
Mechanisms involved in delta-aminolevulinic acid (ALA)-induced photosensitivity of tumor cells: relation of ferrochelatase and uptake of ALA to the accumulation of protoporphyrin.
MEK reduces cancer-specific PpIX accumulation through the RSK-ABCB1 and HIF-1?-FECH axes.
Metabolic characterization of tumor cell-specific protoporphyrin IX accumulation after exposure to 5-aminolevulinic acid in human colonic cells.
Mitochondrial localization of ABC transporter ABCG2 and its function in 5-aminolevulinic acid-mediated protoporphyrin IX accumulation.
p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron.
Protoporphyrin-IX accumulation and cutaneous tumor regression in mice using a ferrochelatase inhibitor.
Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats.
Sex comparison of heme pathway in rats bearing hepatic tumors.
Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice.
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
The mitochondrial protein frataxin is downregulated in hemodialysis patients.
The p53-Dependent Expression of Frataxin Controls 5-Aminolevulinic Acid-Induced Accumulation of Protoporphyrin IX and Photo-Damage in Cancerous Cells.
[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.
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant.
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.
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
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.
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich's Ataxia Patients.
A gene expression phenotype in lymphocytes from Friedreich ataxia patients.
A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels.
A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia.
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.
A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.
A novel solution-gated graphene transistor biosensor for ultrasensitive detection of trinucleotide repeats.
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I.
A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.
Activating frataxin expression by single-stranded siRNAs targeting the GAA repeat expansion.
Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.
Alleviating GAA repeat induced transcriptional silencing of the Friedreich's ataxia gene during somatic cell reprogramming.
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.
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.
Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia.
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS.
Base Excision Repair of Chemotherapeutically-Induced Alkylated DNA Damage Predominantly Causes Contractions of Expanded GAA Repeats Associated with Friedreich's Ataxia.
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
Calcitriol increases frataxin levels and restores mitochondrial function in cell models of Friedreich Ataxia.
Can Telomere Shortening in Human Peripheral Blood Leukocytes Serve as a Disease Biomarker of Friedreich's Ataxia?
Carbamylated erythropoietin increases frataxin independent from the erythropoietin receptor.
Central role and mechanisms of ?-cell dysfunction and death in friedreich ataxia-associated diabetes.
Changes in mitochondrial glutathione levels and protein thiol oxidation in ?yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.
Characterization of human frataxin missense variants in cancer tissues.
Chemical shift assignment of a thermophile frataxin.
Cisplatin may induce frataxin expression.
Clinical monitoring in a patient with friedreich ataxia and osteogenic sarcoma.
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding.
Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia.
Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia.
Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family.
Crystal structure of human frataxin.
Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia.
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia.
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.
Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's 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.
DNA repair pathways are altered in neural cell models of frataxin deficiency.
Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly.
Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia.
Dynamics, stability and iron-binding activity of frataxin clinical mutants.
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia.
Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.
Effector Role Reversal during Evolution: The Case of Frataxin in Fe-S Cluster Biosynthesis.
Effects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia - a Dose-Response Trial.
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.
Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability.
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.
Epigenetic-based therapies for Friedreich ataxia.
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
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.
Evaluation of an FRDA-EGFP genomic reporter assay in transgenic mice.
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies.
Expression of human frataxin is regulated by transcription factors SRF and TFAP2.
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.
Frataxin and mitochondrial FeS cluster biogenesis.
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
Frataxin interacts with Isu1 through a conserved tryptophan in its beta-sheet.
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity.
Frataxin Structure and Function.
Frataxin-bypassing Isu1: characterization of the bypass activity in cells and mitochondria.
Frataxin: a protein in search for a function.
Friedreich ataxia: a paradigm for mitochondrial diseases.
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA?TTC Triplet Repeat Instability.
Friedreich's Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron-Sulfur Cluster Assembly Complex.
Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases.
Friedreich's Ataxia: From the (GAA)( n ) Repeat Mediated Silencing to New Promising Molecules for Therapy.
Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin.
Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN Deficiency.
Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.
Genome-Engineering Tools to Establish Accurate Reporter Cell Lines That Enable Identification of Therapeutic Strategies to Treat Friedreich's Ataxia.
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia.
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models.
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Heterotrifunctional Chemical Cross-Linking Mass Spectrometry Confirms Physical Interaction between Human Frataxin and ISU.
His86 from the N-Terminus of Frataxin Coordinates Iron and Is Required for Fe-S Cluster Synthesis.
HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia.
HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis.
Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.
Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
Identification of telomere dysfunction in Friedreich ataxia.
Impaired respiration is positively correlated with decreased life span in Caenorhabditis elegans models of Friedreich Ataxia.
In vivo maturation of human frataxin.
Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Upregulate Frataxin During In Vitro Differentiation to Peripheral Sensory Neurons.
Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
Iron-induced oligomerization of human FXN81-210 and bacterial CyaY frataxin and the effect of iron chelators.
Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo.
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.
Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.
Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich's ataxia.
Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction.
Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals.
Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Low apolipoprotein A-I levels in Friedreich's ataxia and in frataxin-deficient cells: Implications for therapy.
Mammalian frataxin directly enhances sulfur transfer of NFS1 persulfide to both ISCU and free thiols.
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.
Mechanism of activation of the human cysteine desulfurase complex by frataxin.
Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease.
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Mitochondrial ferritin in neurodegenerative diseases.
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.
Molecular analysis of Friedreich's ataxia locus in the Indian population.
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
Monomeric yeast frataxin is an iron-binding protein.
Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis.
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.
New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells.
Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia.
Oligomerization propensity and flexibility of yeast frataxin studied by X-ray crystallography and small-angle X-ray scattering.
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia.
Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich's ataxia cells.
Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat.
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Probing the kinetic stabilities of Friedreich's ataxia clinical variants using a solid phase GroEL chaperonin capture platform.
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.
Recombinant human erythropoietin: effects on frataxin expression in vitro.
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Role of long purine stretches in controlling the expression of genes associated with neurological disorders.
Sensitivity of FRDA lymphoblasts to salts of transition metal ions.
Solution structure of the bacterial frataxin ortholog, CyaY: mapping the iron binding sites.
Somatic instability of the expanded GAA repeats in Friedreich's ataxia.
Specific alterations of carbohydrate metabolism are associated with hepatocarcinogenesis in mitochondrially impaired mice.
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription.
Structural and functional characterization of a frataxin from a thermophilic organism.
Structure-Function Analysis of Friedreich's Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe-S Assembly Complex.
Sustained FXN expression in dorsal root ganglia from a nonreplicative genomic HSV-1 vector.
Synthetic transcription elongation factors license transcription across repressive chromatin.
Targeting the gene in 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.
The factors governing the thermal stability of frataxin orthologues: how to increase a protein's stability.
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
The in vivo mitochondrial two-step maturation of human frataxin.
The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia.
The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S biogenesis in Escherichia coli.
The N-terminus of mature human frataxin is intrinsically unfolded.
The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia.
The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly.
The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.
The role of oxidative stress in Friedreich's ataxia.
The structure and function of frataxin.
The yeast metacaspase is implicated in oxidative stress response in frataxin-deficient cells.
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures.
Translating HDAC inhibitors in Friedreich's ataxia.
Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.
Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism.
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia.
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.
Yeast frataxin sequentially chaperones and stores iron by coupling protein assembly with iron oxidation.
[Friedreich ataxia and diabetes mellitus--family study]
[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.
Ophthalmoplegia
Mitochondrial disease.
Optic Atrophy
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Optic Nerve Diseases
Pathophysiology of the optic neuropathy associated with Friedreich ataxia.
Visual system involvement in patients with Friedreich's ataxia.
Pantothenate Kinase-Associated Neurodegeneration
[Genetics of hereditary iron overload]
Paralysis
Internal restriction sites: quality assurance aids in genotyping.
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.
Mitochondrial disease.
Parkinsonian Disorders
Mitochondrial 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.
Markers for vulnerability in acute porphyria. A hypothesis paper.
The porphyrias.
Porphyria, Erythropoietic
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Ferrochelatase.
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
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.
Protoporphyrinogen oxidase and ferrochelatase in porphyria variegata.
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
Reduced ferrochelatase activity: a defect common to porphyria variegata and protoporphyria.
The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts.
The porphyrias.
Porphyrias
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18.
Comparison of the effects of griseofulvin and dihydropyridines on ferrochelatase activity and porphyrin accumulation in primary cultures of mouse and rat hepatocytes.
Effect of decreased ferrochelatase activity on iron and porphyrin content in mitochondria of mice with porphyria induced by griseofulvin.
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.
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage.
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
Markers for vulnerability in acute porphyria. A hypothesis paper.
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
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.
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.
Studies on the mechanism of experimental porphyria and ferrochelatase inhibition produced by 3,5-diethoxycarbonyl-1,4-dihydrocollidine.
Studies on the porphyrinogenic action of 1,2,4-trichlorobenzene in birds.
The 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.
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species.
The porphyrias.
Toxic effects of griseofulvin: disease models, mechanisms, and risk assessment.
[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.
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
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.
A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria.
A bicistronic SIN-lentiviral vector containing G156A MGMT allows selection and metabolic correction of hematopoietic protoporphyric cell lines.
A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma--reply.
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria.
A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.
A novel ferrochelatase gene mutation (IVS1-2 A-->C) in erythropoietic protoporphyria.
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.
A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.
A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria.
Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.
Amelioration of the metabolic defect in erythropoietic protoporphyria by expression of human ferrochelatase in cultured cells.
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.
Anaesthetic management of a patient with erythropoietic protoporphyria for ventricular septal defect closure.
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22.
Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation.
Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria.
Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
Breast cancer resistance protein (Bcrp1/Abcg2) is expressed in the harderian gland and mediates transport of conjugated protoporphyrin IX.
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria.
Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report.
Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury.
Clinical implications of the molecular biology of erythropoietic protoporphyria.
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Coproporphyrinogen oxidase, protoporphyrinogen oxidase and ferrochelatase activities in human liver biopsies with special reference to alcoholic liver disease.
Crystal structure of ferrochelatase: the terminal enzyme in heme biosynthesis.
Decreased leukocyte ferrochelatase activity in erythropoietic protoporphyria.
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Different characteristics of ferrochelatase in cultured fibroblasts of erythropoietic protoporphyria patients and normal controls.
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
Erythropoietic Protoporphyria (Erythrohepatic Protoporphyria).
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
Erythropoietic protoporphyria and early onset of cholestasis.
Erythropoietic protoporphyria and pretransplantation treatment with nonbiological liver assist devices.
Erythropoietic Protoporphyria in a Japanese Population.
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.
Erythropoietic protoporphyria presenting in an adult.
Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy.
Erythropoietic protoporphyria.
Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
Erythropoietic protoporphyria: a functional analysis of the leader sequence of human ferrochelatase.
Erythropoietic protoporphyria: a new mutation responsible for exon skipping in the human ferrochelatase gene.
Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations.
Erythropoietic protoporphyria: evidence that it is due to a variant ferrochelatase.
Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene.
Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Exacerbation of erythropoietic protoporphyria by hyperthyroidism.
Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.
Excessive erythrocyte ppix influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyria.
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
Exonic deletions as a cause of erythropoietic protoporphyria.
Ferrochelatase activities in patients with erythropoietic protoporphyria and their families.
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
Ferrochelatase Deficiency Abrogated the Enhancement of Aminolevulinic Acid-mediated Protoporphyrin IX by Iron Chelator Deferoxamine.
Ferrochelatase deficiency in an infant with anemia and growth delay.
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.
Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria.
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the argentinean population.
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.
Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria.
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families.
Genetic study in a Singaporean patient with erythropoietic protoporphyria.
Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria.
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.
Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.
Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection.
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.
Hemoglobin deficit: an inherited hypochromic anemia in the mouse.
Hepatic damage and oxidative stress induced by Griseofulvin in mice.
Hepatic gene expression in protoporphyic Fech mice is associated with cholestatic injury but not a marked depletion of the heme regulatory pool.
Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.
Human protoporphyria: genetic heterogeneity at the ferrochelatase locus.
Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice.
Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria.
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
Inactivation of protoporphyrin IX in erythrocytes in patients with erythropoietic protoporphyria: a new treatment modality.
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.
Induction of hepatic aminolevulinate acid synthetase activity by isoflurane in a genetic model for erythropoietic protoporphyria.
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Inhibition of thioredoxin reductase 1 by porphyrins and other small molecules identified by a high-throughput screening assay.
Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).
Iron therapy for hepatic dysfunction in erythropoietic protoporphyria.
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
Level of Expression of the Nonmutant Ferrochelatase Allele is a Determinant of Biochemical Phenotype in a Mouse Model of Erythropoietic Protoporphyria.
Liver disease and erythropoietic protoporphyria: a concise review.
Liver metabolomics in a mouse model of erythropoietic protoporphyria.
Liver pathology and hepatocarcinogenesis in a long-term mouse model of erythropoietic protoporphyria.
Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria.
Liver transplantation for erythropoietic protoporphyria with hepatic failure: a case report.
Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy.
Longitudinal Analysis of Erythrocyte and Plasma Protoporphyrin Levels in Patients with Protoporphyria.
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.
Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
Molecular analysis of functional and nonfunctional genes for human ferrochelatase: isolation and characterization of a FECH pseudogene and its sublocalization on chromosome 3.
Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.
Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria.
Molecular characterization of erythropoietic protoporphyria in South Africa.
Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase.
Molecular defect in human erythropoietic protoporphyria with fatal liver failure.
Molecular defects in erythropoietic protoporphyria with terminal liver failure.
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Molecular genetics of erythropoietic protoporphyria.
Molecular mechanisms of dominant expression in porphyria.
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.
Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria.
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population.
Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria.
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
Novel Null-allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria: Erythropoietic Protoporphyria in Argentina.
Oxidative stress, Nrf2 and keratin upregulation associate with Mallory-Denk body formation in mouse erythropoietic protoporphyria.
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy.
Perioperative management of a bleeding jejunal tumor in a patient with erythropoietic protoporphyria: A case report and literature review.
Photo(chemo)therapy and general management of erythropoietic protoporphyria.
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.
Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature.
Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria.
Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase.
Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.
Protective action of antioxidants on hepatic damage induced by griseofulvin.
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.
Protoporphyrin photosensitivity cannot be attenuated by oral N-acetylcysteine.
Quantitative analysis of ferrochelatase mRNA in blood cells of erythropoietic protoporphyria patients.
Recessive inheritance of erythropoietic protoporphyria with liver failure.
Red blood cell exchange transfusion in two patients with advanced erythropoietic protoporphyria.
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
Relationship between biliary lipid and protoporphyrin secretion; potential role of mdr2 P-glycoprotein in hepatobiliary organic anion transport.
Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria.
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats.
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria.
Structure and function of ferrochelatase.
Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.
Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells.
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene.
Terminal hepatic failure in erythropoietic protoporphyria.
The effect of griseofulvin on the heme pathway--II. An exhaustive analysis during short and long-term challenge.
The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria.
The ferrochelatase gene structure and molecular defects associated with erythropoietic protoporphyria.
The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
The porphyrias.
The value of intravenous heme-albumin and plasmapheresis in reducing postoperative complications of orthotopic liver transplantation for erythropoietic protoporphyria.
UK experience of liver transplantation for erythropoietic protoporphyria.
Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria.
Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.
Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model.
Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study.
Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria.
Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria.
[Anesthetic Management under Spinal Anesthesia in a Patient with Erythropoietic Protoporphyria].
[Cholestatic erythrohepatic protoporphyria: porphyrin metabolism before and after liver transplantation]
[Contribution of Japanese researchers to progress in the field of hematology in the last 100 years: Porphyria/congenital heme synthetase deficiency]
[Decreased heme synthetase activity in erythroblasts in two patients with erythropoietic protoporphyria (author's transl)]
[Erythropoietic protoporphyria : Clinical manifestations, diagnosis and new therapeutic possibilities].
[Erythropoietic protoporphyria. A rare inherited metabolic disorder with skin symptoms].
[Erythropoietic protoporphyria]
[Homozygote erythropoietic protoporphyria associated with porokeratosis]
[Liver disease in erythropoietic protoporphyria]
protoporphyrin ferrochelatase deficiency
A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria.
A novel mitochondrial heteroplasmic C13806A point mutation associated with Iranian Friedreich's ataxia.
A role for astrocytes in cerebellar deficits in frataxin deficiency: Protection by insulin-like growth factor I.
A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency.
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia.
Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells.
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.
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.
Assessment of in vitro and in vivo mitochondrial function in Friedreich's ataxia and Huntington's disease.
Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids.
Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure.
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.
Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice.
Calpain-Inhibitors Protect Frataxin-Deficient Dorsal Root Ganglia Neurons from Loss of Mitochondrial Na+/Ca2+ Exchanger, NCLX, and Apoptosis.
Can Telomere Shortening in Human Peripheral Blood Leukocytes Serve as a Disease Biomarker of Friedreich's Ataxia?
Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.
Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.
Cardiomyopathy in Friedreich's ataxia.
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation.
Changes in mitochondrial glutathione levels and protein thiol oxidation in ?yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia.
Correction: Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts.
Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia.
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.
Diabetes in Friedreich ataxia.
Dimethyl fumarate dose-dependently increases mitochondrial gene expression and function in muscle and brain of Friedreich's ataxia model mice.
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
DNA repair pathways are altered in neural cell models of frataxin deficiency.
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation.
Drosophila melanogaster Models of Friedreich's Ataxia.
Drp1-dependent peptide reverse mitochondrial fragmentation, a homeostatic response in Friedreich ataxia.
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease.
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?
Erythropoietin in Friedreich ataxia.
Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study.
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
Ferrochelatase Deficiency Abrogated the Enhancement of Aminolevulinic Acid-mediated Protoporphyrin IX by Iron Chelator Deferoxamine.
Ferrochelatase deficiency in an infant with anemia and growth delay.
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver.
Ferrochelatase deficiency of the bone marrow in a syndrome of congenital microcytic anaemia with iron overload of the liver and hyperferraemia.
Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency.
Frataxin and frataxin deficiency in Friedreich's ataxia.
Frataxin and mitochondrial FeS cluster biogenesis.
Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia.
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
Frataxin deficiency and mitochondrial dysfunction.
Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins.
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass.
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
Frataxin deficiency induces Schwann cell inflammation and death.
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model.
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.
Frataxin Deficiency Promotes Excess Microglial DNA Damage and Inflammation that Is Rescued by PJ34.
Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.
Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
Frataxin Is Localized to Both the Chloroplast and Mitochondrion and Is Involved in Chloroplast Fe-S Protein Function in Arabidopsis.
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
Frataxin knockin mouse.
Frataxin overexpressing mice.
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
Frataxin Structure and Function.
Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.
Friedreich ataxia: an update on animal models, frataxin function and therapies.
Friedreich Ataxia: current state-of-the-art, and future prospects for mitochondrial-focused therapies.
Friedreich Ataxia: Developmental Failure of the Dorsal Root Entry Zone.
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
Friedreich ataxia: neuropathology revised.
Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
Friedreich's Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.
Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?
Friedreich's ataxia: clinical aspects and pathogenesis.
Friedreich's Ataxia: From the (GAA)( n ) Repeat Mediated Silencing to New Promising Molecules for Therapy.
Friedreich's ataxia: past, present and future.
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics.
Friedreich's ataxia: the vicious circle hypothesis revisited.
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector.
Functional studies of frataxin.
Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection.
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models.
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts.
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells.
Hemoglobin deficit: an inherited hypochromic anemia in the mouse.
Hepatic damage and oxidative stress induced by Griseofulvin in mice.
Human Mesenchymal Stem Cells Increase Anti-oxidant Defences in Cells Derived from Patients with Friedreich's Ataxia.
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice.
Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model of Friedreich's ataxia.
Inactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
Induced Pluripotent Stem Cells from Friedreich Ataxia Patients Fail to Upregulate Frataxin During In Vitro Differentiation to Peripheral Sensory Neurons.
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia.
Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
Iron metabolism and mitochondrial abnormalities in Friedreich ataxia.
Iron metabolism in mice with partial frataxin deficiency.
Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.
Iron-Starvation-Induced Mitophagy Mediates Lifespan Extension upon Mitochondrial Stress in C. elegans.
Iron-sulfur protein maturation in human cells: evidence for a function of frataxin.
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants.
Low frataxin mRNA expression is associated with inflammation and oxidative stress in patients with type 2 diabetes.
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells.
Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.
Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin-deficient strain.
Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia.
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae.
Mitochondrial iron and calcium homeostasis in Friedreich ataxia.
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei.
Mitochondrial pathophysiology in Friedreich's 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.
Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.
Molecular Details of the Yeast Frataxin-Isu1 Interaction during Mitochondrial Fe-S Cluster Assembly.
Movement disorders: Targeted RNA or BDNF gene transfer protects against frataxin deficiency.
Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria.
Neurobehavioral deficits in the KIKO mouse model of Friedreich's ataxia.
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.
Nitric oxide accumulation is required to protect against iron-mediated oxidative stress in frataxin-deficient Arabidopsis plants.
No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells.
Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells.
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.
OVEREXPRESSION OF MITOCHONDRIAL FERRITIN SENSITIZES CELLS TO OXIDATIVE STRESS VIA AN IRON-MEDIATED MECHANISM.
Oxidative stress and altered lipid metabolism in Friedreich ataxia.
Oxidative stress modulates rearrangement of endoplasmic reticulum-mitochondria contacts and calcium dysregulation in a Friedreich's ataxia model.
Oxidative stress-dependent frataxin inhibition mediated alcoholic hepatocytotoxicity through ferroptosis.
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia.
Pharmacotherapy for friedreich ataxia.
Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model.
Plant Frataxin in Metal Metabolism.
Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature.
Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria.
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia.
PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich's Ataxia Therapy.
Progress in understanding Friedreich's ataxia using human induced pluripotent stem cells.
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.
Protective action of antioxidants on hepatic damage induced by griseofulvin.
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Recessive inheritance of erythropoietic protoporphyria with liver failure.
Reduced ferrochelatase activity in fibroblasts from patients with porphyria variegata.
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant.
Relation of cytosolic iron excess to cardiomyopathy of Friedreich's ataxia.
Relationship between biliary lipid and protoporphyrin secretion; potential role of mdr2 P-glycoprotein in hepatobiliary organic anion transport.
Restless legs syndrome in Friedreich ataxia: A polysomnographic study.
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease.
Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats.
Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer.
Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells.
The chemical form of mitochondrial iron in Friedreich's ataxia.
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins.
The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin.
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
The iron-binding CyaY and IscX proteins assist the ISC-catalyzed Fe-S biogenesis in Escherichia coli.
The mitochondrial protein frataxin is essential for heme biosynthesis in plants.
The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.
The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy.
The structure and function of frataxin.
Therapeutic Prospects for Friedreich's Ataxia.
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
Unanswered questions in friedreich ataxia.
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
Unveiling a common mechanism of apoptosis in ?-cells and neurons in Friedreich's ataxia.
Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model.
[Cholestatic erythrohepatic protoporphyria: porphyrin metabolism before and after liver transplantation]
[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]
Retinal Neovascularization
Ferrochelatase regulates retinal neovascularization.
Scoliosis
Small molecules affecting transcription in Friedreich ataxia.
[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
Early-Onset Friedreich's Ataxia With Oculomotor Apraxia.
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.
The in vivo mitochondrial two-step maturation of human frataxin.
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.
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).
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia.
Friedreich's 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.
Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
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.
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.
Thalassemia
Heme synthetase in thalassemia.
Tuberculosis
Identification of [2Fe-2S] clusters in microbial ferrochelatases.
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.
The mitochondrial protein frataxin is downregulated in hemodialysis patients.
Urinary Bladder Neoplasms
Expression of ferrochelatase has a strong correlation in protoporphyrin IX accumulation with photodynamic detection of bladder cancer.
Vitamin E Deficiency
Autosomal recessive cerebellar ataxias.
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction.