Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
about
Inborn errors in the metabolism of glutathioneMolecular basis of glutathione synthetase deficiency and a rare gene permutation eventEmbryonic lethality and liver degeneration in mice lacking the metal-responsive transcriptional activator MTF-1.Regulation of glutathione synthesisGlutathione synthesisGlutathione synthesis is essential for mouse development but not for cell growth in cultureHereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.Enzymatic defects underlying hereditary glutamate cysteine ligase deficiency are mitigated by association of the catalytic and regulatory subunitsUrine Metabolomics by (1)H-NMR Spectroscopy Indicates Associations between Serum 3,5-T2 Concentrations and Intermediary Metabolism in Euthyroid Humans5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesSystems biology tools for toxicology.Metabolic phenotyping applied to pre-clinical and clinical studies of acetaminophen metabolism and hepatotoxicity.L-Cysteine metabolism and its nutritional implications.Disruption of redox homeostasis and induction of apoptosis by suppression of glutathione synthetase expression in a mammalian cell line.Metabolic response to low-level toxicant exposure in a novel renal tubule epithelial cell system.Cloning and characterization of the human glutathione synthetase 5'-flanking regionRole of AP-1 in the coordinate induction of rat glutamate-cysteine ligase and glutathione synthetase by tert-butylhydroquinone.Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.Glutathione synthetase from Plasmodium falciparum.Function of conserved residues of human glutathione synthetase: implications for the ATP-grasp enzymes.A case of severe glutathione synthetase deficiency with novel GSS mutations.Defective GSS does not synthesize GSH
P2860
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P2860
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@ast
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@en
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@en-gb
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@nl
type
label
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@ast
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@en
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@en-gb
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@nl
prefLabel
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@ast
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@en
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@en-gb
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@nl
P2093
P2860
P356
P1433
P1476
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria
@en
P2093
M W Lieberman
P2860
P2888
P356
10.1038/NG1196-361
P407
P577
1996-11-01T00:00:00Z
P6179
1004659875