Disease on EC 2.3.1.37 - 5-aminolevulinate synthase

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DISEASE
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5-aminolevulinate synthase deficiency
Aberrant iron accumulation and oxidized status of erythroid-specific delta-aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts.
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
Establishment of a cell model of X-linked sideroblastic anemia using genome editing.
Alzheimer Disease
Down-regulation of aminolevulinate synthase, the rate-limiting enzyme for heme biosynthesis in Alzheimer's disease.
Anemia
5-Aminolaevulinic acid synthase activity in developing human erythroblasts.
A toxicogenomic approach for identifying biomarkers for myelosuppressive anemia in rats.
Abnormal haem biosynthesis in the chronic anaemia of rheumatoid arthritis.
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease.
Developmental and convalescent changes of the anemia caused by excess methionine in the rat.
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
Gene symbol: ALAS2. Disease: sideroblastic anaemia.
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Heme synthesis in hereditary hemolytic anemias: decreased delta-aminolevulinic acid synthetase in hemoglobin Köln disease.
Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.
Iron overload and prolonged ingestion of iron supplements: Clinical features and mutation analysis of hemochromatosis-associated genes in four cases.
Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
Novel human pathological mutations. Gene symbol: ALAS2. Disease: sideroblastic anaemia.
Properties of chicken erythrocyte delta-aminolevulinate synthase.
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
The molecular basis of the sideroblastic anemias.
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
X-linked sideroblastic anaemia due to ALAS? mutations in the Netherlands: a disease in disguise.
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.
Anemia, Dyserythropoietic, Congenital
5-Aminolaevulinic acid synthase activity in developing human erythroblasts.
Anemia, Hemolytic
[Activity of key enzymes of heme metabolism and cytochrome P-450 content in the rat liver in experimental rhabdomyolysis and hemolytic anemia]
Anemia, Hemolytic, Congenital
Heme synthesis in hereditary hemolytic anemias: decreased delta-aminolevulinic acid synthetase in hemoglobin Köln disease.
Anemia, Macrocytic
The molecular basis of the sideroblastic anemias.
Anemia, Refractory
Lack of efficacy of pyridoxine (vitamin B6) treatment in acquired idiopathic sideroblastic anaemia, including refractory anaemia with ring sideroblasts.
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
Anemia, Sickle Cell
Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Anemia, Sideroblastic
5-Aminolaevulinic acid synthase activity in developing human erythroblasts.
5-Aminolevulinate synthase and the first step of heme biosynthesis.
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells.
5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia.
5-aminolevulinate synthase: catalysis of the first step of heme biosynthesis.
A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia.
A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.
A Novel Hemizygous I418S Mutation in the ALAS2 Gene in a Young Korean Man with X-Linked Sideroblastic Anemia.
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review.
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia.
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia.
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.
Bone marrow delta-aminolevulinic acid synthetase activity in experimental sideroblastic anemia.
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Circular permutation of 5-aminolevulinate synthase as a tool to evaluate folding, structure and function.
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).
Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.
Congenital sideroblastic anemia of a Saudi child.
Congenital sideroblastic anemia: a report of two cases.
Deficient heme and globin synthesis in embryonic stem cells lacking the erythroid-specific delta-aminolevulinate synthase gene.
Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with sideroblastic anemia.
Delta-aminolevulinic acid synthetase activity in normal human bone marrow and in patients with idiopathic sideroblastic anemia.
Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia.
Establishment of a cell model of X-linked sideroblastic anemia using genome editing.
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
Gene symbol: ALAS2. Disease: sideroblastic anaemia.
Generation and Molecular Characterization of Human Ring Sideroblasts: A Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation.
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Haem biosynthesis in refractory sideroblastic anaemia associated with the preleukaemic syndrome.
Heme biosynthesis and the porphyrias.
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome.
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia.
In silico analyses of Fsf1 sequences, a new group of fungal proteins orthologous to the metazoan sideroblastic anemia-related sideroflexin family.
Intron 1 GATA site enhances ALAS2 expression indispensably during erythroid differentiation.
Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.
Lack of efficacy of pyridoxine (vitamin B6) treatment in acquired idiopathic sideroblastic anaemia, including refractory anaemia with ring sideroblasts.
Late-onset X-linked sideroblastic anemia following hemodialysis.
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.
Mechanism of 5-aminolevulinate synthase and the role of the protein environment in controlling the cofactor chemistry.
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Mitochondria in hematopoiesis and hematological diseases.
Mitochondrial iron metabolism and sideroblastic anemia.
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
New Mutation in Erythroid-Specific Delta-Aminolevulinate Synthase as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine.
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Novel human pathological mutations. Gene symbol: ALAS2. Disease: sideroblastic anaemia.
Onset of X-linked sideroblastic anemia in the fourth decade.
Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia.
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
Recent advances in the understanding of inherited sideroblastic anaemia.
Regulation and tissue-specific expression of ?-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.
Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis.
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: Phenotype and genotype features of five unrelated patients.
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of ten missense mutations.
Sideroblastic anemias: variations on imprecision in diagnostic criteria, proposal for an extended classification of sideroblastic anemias.
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations.
The activities of delta-aminolaevulinic acid synthase and haem synthase in experimental sideroblastic anaemia. Effect of mitochondrial iron excess on the enzyme activity in peripheral red blood cells.
The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability.
The genetics of inherited sideroblastic anemias.
The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes.
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
X-linked sideroblastic anaemia due to ALAS? mutations in the Netherlands: a disease in disguise.
X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
X-linked Sideroblastic Anemia Due to Carboxyl-terminal ALAS2 Mutations That Cause Loss of Binding to the ?-Subunit of Succinyl-CoA Synthetase (SUCLA2).
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
[A case of acquired sideroblastic anemia with reduced activity of either delta-aminolevulinic acid synthetase in erythroblasts or neutral protease and cytochrome oxidase in granulocytes (author's transl)]
[A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation].
[A family of hereditary refractory sideroblastic anemia with markedly reduced delta-aminolevulinic acid synthetase activity in bone marrow erythroblasts]
[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia]
[Acquired, vitamin B6-responsive, primary sideroblastic anemia, an enzyme deficiency in heme synthesis]
[An infant case of sideroblastic anemia that responded to oral pyridoxine]
[Construction of recombinant vector expressing ALAS2 gene in X-linked sideroblastic anemia.]
[Genetics of hereditary iron overload]
[Hereditary sideroblastic anemia: a rare diagnosis]
[Progress of study on sideroblastic anemia and its possible gene therapy--review]
[Recent progress in iron metabolism and iron-related anemia].
[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
Ataxia
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.
beta-Thalassemia
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.
Carcinogenesis
Heme biosynthesis pathway regulation in a model of hepatocarcinogenesis pre-initiation.
Carcinoma
Expression of Murine 5-Aminolevulinate Synthase Variants Causes Protoporphyrin IX Accumulation and Light-Induced Mammalian Cell Death.
Heme regulation in mouse mammary carcinoma and liver of tumor bearing mice--I. Effect of allyl-isopropylacetamide and veronal on delta-aminolevulinate synthetase, cytochrome P-450 and cytochrome oxidase.
Over expression of 5-aminolevulinic acid synthase 2 increased protoporphyrin IX in nonerythroid cells.
Over-expression 5-aminolevulinic acid synthase 2 in nonerythroid cell may causes protoporphyrin IX accumulation.
Carcinoma, Ehrlich Tumor
Heme metabolism and turnover of cytochrome P-450 in tumor-bearing mouse livers.
Carcinoma, Hepatocellular
CYP2E1 overexpression up-regulates both non-specific delta-aminolevulinate synthase and heme oxygenase-1 in the human hepatoma cell line HLE/2E1.
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
Insulin inhibits delta-aminolevulinate synthase gene expression in rat hepatocytes and human hepatoma cells.
Cholestasis
Effect of cholestasis produced by bile duct ligation on hepatic heme and hemoprotein metabolism in rats.
Friedreich Ataxia
[Genetics of hereditary iron overload]
Genetic Diseases, Inborn
[Genetics of hereditary iron overload]
Hemochromatosis
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme.
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
Hemoglobinopathies
Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Hepatitis
[Peculiarities of the Structural-Functional State of the Cytochrome Part of Liver Mitochondrial Respiratory Chain under Conditions of Acetaminophen-induced Hepatitis against the Background of Alimentary Deprivation of Protein].
Hepatitis C
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.
Hepatitis C, Chronic
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.
Hypertension, Pulmonary
Increased pulmonary heme oxygenase-1 and delta-aminolevulinate synthase expression in monocrotaline-induced pulmonary hypertension.
Infections
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.
Iron Overload
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Control of delta-aminolaevulinate synthase and haem oxygenase in chronic-iron-overloaded rats.
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Recent advances in the understanding of inherited sideroblastic anaemia.
Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: Phenotype and genotype features of five unrelated patients.
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
[Genetics of hereditary iron overload]
Leukemia
A toxicogenomic approach for identifying biomarkers for myelosuppressive anemia in rats.
Effect of Friend leukemia virus infection upon polycythemia and delta-aminolevulinic acid synthetase activity in nurine spleen and liver.
Erythroid differentiation in cultured Friend leukemia cells treated with metabolic inhibitors.
Induction of delta-aminolevulinic acid synthetase during erythroid differentiation of cultured leukemia cells.
Induction of delta-aminolevulinic acid synthetase in cultured friend leukemia cells by dimethyl sulfoxide and human placental extract.
miR-218 Inhibits Erythroid Differentiation and Alters Iron Metabolism by Targeting ALAS2 in K562 Cells.
Leukemia, Erythroblastic, Acute
Biphasic ordered induction of heme synthesis in differentiating murine erythroleukemia cells: role of erythroid 5-aminolevulinate synthase.
Control of heme synthesis during Friend cell differentiation: role of iron and transferrin.
Differential induction responses of delta-aminolevulinate synthase mRNAs during erythroid differentiation: use of nonradioactive in situ hybridization.
Erythroleukemia differentiation. Distinctive responses of the erythroid-specific and the nonspecific delta-aminolevulinate synthase mRNA.
Expression of Murine 5-Aminolevulinate Synthase Variants Causes Protoporphyrin IX Accumulation and Light-Induced Mammalian Cell Death.
Hypoxic up-regulation of erythroid 5-aminolevulinate synthase.
Identification of the novel erythroid-specific enhancer for ALAS2 gene and its loss-of-function mutation associated with congenital sideroblastic anemia.
Protein tyrosine phosphatase-dependent activation of beta-globin and delta-aminolevulinic acid synthase genes in the camptothecin-induced IW32 erythroleukemia cell differentiation.
The role of iron supply in the regulation of 5-aminolevulinate synthase mRNA levels in murine erythroleukemia cells.
Leukemia, Myeloid
5-Aminolevulinate synthase expression and hemoglobin synthesis in a human myelogenous leukemia cell line.
Liver Cirrhosis
Changes in aminolevulinate synthase and aminolevulinate dehydratase activity in cirrhotic liver.
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
Liver Diseases
Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron.
Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria.
Liver Failure, Acute
Increased heme oxygenase-1 and decreased delta-aminolevulinate synthase expression in the liver of patients with acute liver failure.
Liver Neoplasms
Heme synthesis in normal mouse liver and mouse liver tumors.
Malnutrition
[Activity of delta-aminolevulinic synthetase, cytochrome oxidase and levels of the mixed function oxidase system during experimental protein malnutrition. Response to re-alimentation]
Mental Retardation, X-Linked
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
Myelodysplastic Syndromes
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review.
Neoplasms
Alterations of hepatic delta-aminolevulinic acid synthetase, heme oxygenase, microsomal cytochrome content and drug metabolism in rats bearing ascitic tumors AH 13, AH 66 and AH 414 and a 3-methylcholanthrene induced tumor.
Heme enzyme patterns in rat liver nodules and tumors.
Heme metabolism and turnover of cytochrome P-450 in tumor-bearing mouse livers.
Heme regulation in mouse mammary carcinoma and liver of tumor bearing mice--I. Effect of allyl-isopropylacetamide and veronal on delta-aminolevulinate synthetase, cytochrome P-450 and cytochrome oxidase.
Repression of 5-aminolevulinate synthase gene by the potent tumor promoter, TPA, involves multiple signal transduction pathways.
Rhodanese and ALA-S in mammary tumor and liver from normal and tumor-bearing mice.
Sex comparison of heme pathway in rats bearing hepatic tumors.
Temporal and spatial patterns of ovarian gene transcription following an ovulatory dose of gonadotropin in the rat.
Pantothenate Kinase-Associated Neurodegeneration
[Genetics of hereditary iron overload]
Pelger-Huet Anomaly
Impaired heme synthesis in a family with Pelger-Huët anomaly, recurrent abdominal pain attacks and impaired neutrophil motility in vitro.
Photosensitivity Disorders
Expression of Murine 5-Aminolevulinate Synthase Variants Causes Protoporphyrin IX Accumulation and Light-Induced Mammalian Cell Death.
Polycythemia
Effect of Friend leukemia virus infection upon polycythemia and delta-aminolevulinic acid synthetase activity in nurine spleen and liver.
Porphyria Cutanea Tarda
Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron.
Influence of chloroquine on the porphyrin metabolism.
Rifampicin-induced porphyria cutanea tarda.
The porphyrias: advances in diagnosis and treatment.
Porphyria, Acute Intermittent
Acute intermittent porphyria: pathophysiology and treatment.
Administration of the anesthetic isoflurane to mice: a model for acute intermittent porphyria?
Clinical usefulness of cimetidine for the treatment of acute intermittent porphyria--a preliminary report.
Differential effects of metalloporphyrins on messenger RNA levels of delta-aminolevulinate synthase and heme oxygenase. Studies in cultured chick embryo liver cells.
Effects of mifepristone (RU-486) on heme metabolism and cytochromes P-450 in cultured chick embryo liver cells, possible implications for acute porphyria.
Induction of the synthesis of delta-aminolevulinic acid synthetase in liver parenchyma cells in culture by chemical that induce acute porphyria.
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria.
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.
Porphyrin and heme metabolism and the porphyrias.
Porphyrinogenic properties of the anesthetic enflurane.
Repression of ALA synthase by heme and zinc-mesoporphyrin in a chick embryo liver cell culture model of acute porphyria.
Sevoflurane: its action on heme metabolism and Phase I drug metabolizing system.
Porphyria, Erythropoietic
Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
An immunochemical study of delta-aminolevulinate synthase and delta-aminolevulinate dehydratase in liver and erythroid cells of rat.
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria.
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
Porphyrias
Acute intermittent porphyria: pathophysiology and treatment.
Acute porphyrias in the Argentinean population: a review.
Administration of the anesthetic isoflurane to mice: a model for acute intermittent porphyria?
Aging-related decreases in hepatic mitochondrial and cytosolic delta-aminolevulinic acid synthase during experimental porphyria.
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
Antagonistic effect of FePP on the ethanol mediated induction of hepatic, renal and splenic ?-amino levulinic acid synthase activityin vivo in rats.
Clinical usefulness of cimetidine for the treatment of acute intermittent porphyria--a preliminary report.
Effect of heme on allylisopropylacetamide-induced changes in heme and drug metabolism in the rhesus monkey (Macaca mulatta).
Hematologic aspects of the porphyrias.
Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron.
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease.
Influence of chloroquine on the porphyrin metabolism.
Influence of N-acetylcysteine on the hexachlorobenzene induced porphyria in rats.
Maturation of embryonic chick liver delta-aminolevulinate synthase: precursor pools and regulation by intra-cellularly produced heme.
Molecular aspects of the inherited porphyrias.
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.
Porphyrinogenic properties of the anesthetic enflurane.
Postulated deficiency of hepatic heme and repair by hematin infusions in the "inducible" hepatic porphyrias.
Retinoic acid in association with tin-metalloporphyrins influences heme metabolism in vivo in rats.
Rifampicin-induced porphyria cutanea tarda.
Role of inhibition of uroporphyrinogen decarboxylase in PCB-induced porphyria in mice.
Sevoflurane: its action on heme metabolism and Phase I drug metabolizing system.
Strain and sex differences in the response of mice to drugs that induce protoporphyria: role of porphyrin biosynthesis and removal.
Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria.
Studies in laboratory animals to assess the safety of anti-inflammatory agents in acute porphyria.
Studies on the porphyrinogenic action of 1,2,4-trichlorobenzene in birds.
The effect of DL-propranolol on delta-aminolevulinic acid synthetase activity and urinary excretion of porphyrins in allylisopropylacetamide-induced experimental porphyria.
The effect of tetrachlorohydroquinone on hexachlorobenzene-induced porphyria in Japanese quail.
The induction in vitro of the synthesis of delta-aminolevulinic acid synthetase in chemical porphyria: a response to certain drugs, sex hormones, and foreign chemicals.
The porphyrias: advances in diagnosis and treatment.
[Alcohol-induced changes of porphyrin metabolism (author's transl)]
[Nephrologists and porphyrias]
Porphyrias, Hepatic
Abnormal haem biosynthesis in chronic alcoholics.
Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.
Alcohol and porphyrin metabolism.
Effect of hexachlorobenzene on the activities of hepatic alcohol metabolizing enzymes.
Effects of antihypertensive drugs on hepatic heme biosynthesis, and evaluation of ferrochelatase inhibitors to simplify testing of drugs for heme pathway induction.
Hypothesis: Metabolic targeting of 5-aminolevulinate synthase by tryptophan and inhibitors of heme utilisation by tryptophan 2,3-dioxygenase as potential therapies of acute hepatic porphyrias.
Porphyrin and heme metabolism and the porphyrias.
Regulation and tissue-specific expression of ?-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.
Screening of certain anaesthetic agents for their ability to elicit acute porphyric phases in susceptible patients.
The effect of metalloporphyrins and heme liposomes on delta-aminolevulinate synthase activity in rat liver.
The porphyrias: advances in diagnosis and treatment.
Treatment of the porphyrias: mechanisms of action.
[Alcohol-induced changes of porphyrin metabolism (author's transl)]
Protoporphyria, Erythropoietic
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Hepatic and erythropoietic protoporphyria. Delta-aminolevulinic acid synthetase, fluorescence, and microfluorospectrophotometric study.
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.
The porphyrias: advances in diagnosis and treatment.
Starvation
Studies on heme synthesis in the rat adrenal.
Virus Diseases
Effect of Friend leukemia virus infection upon polycythemia and delta-aminolevulinic acid synthetase activity in nurine spleen and liver.
Vitamin B 6 Deficiency
Mechanism of thiamine-induced respiratory deficiency in Saccharomyces carlsbergensis.