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Gluthathione synthetase deficiency
Known as:
Pyroglutamic Aciduria
, 5-Oxoprolinuria
, Deficiency of Glutathione Synthetase
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An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is…
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National Institutes of Health
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Related topics
Related topics
4 relations
Broader (2)
Amino Acid Metabolism, Inborn Errors
GLUTATHIONE SYNTHASE
Narrower (1)
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
congenital deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
A pathway map of glutamate metabolism
S. Yelamanchi
,
S. Jayaram
,
+7 authors
H. Gowda
Journal of Cell Communication and Signaling
2015
Corpus ID: 18785228
Glutamate metabolism plays a vital role in biosynthesis of nucleic acids and proteins. It is also associated with a number of…
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Review
2012
Review
2012
Pyroglutamic acid : throwing light on a lightly studied metabolite
Akhilesh Kumar
,
A. Bachhawat
2012
Corpus ID: 46530211
Pyroglutamic acid or 5-oxoproline is the cyclic lactam of glutamic acid. Its presence in living cells has been reported from…
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Review
2006
Review
2006
Increased anion gap metabolic acidosis as a result of 5-oxoproline (pyroglutamic acid): a role for acetaminophen.
A. Fenves
,
H. Kirkpatrick
,
Viralkumar Patel
,
L. Sweetman
,
M. Emmett
Clinical journal of the American Society of…
2006
Corpus ID: 19608512
The endogenous organic acid metabolic acidoses that occur commonly in adults include lactic acidosis; ketoacidosis; acidosis that…
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Review
2004
Review
2004
The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York…
C. Scriver
,
Beaudet
Biochemistry (Moscow)
2004
Corpus ID: 44850084
0006 2979/02/6705 0611$27.00 ©2002 MAIK “Nauka/Interperiodica” The previous seven editions of this book are well known to the…
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Highly Cited
1999
Highly Cited
1999
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event
G. Polekhina
,
P. Board
,
R. Gali
,
J. Rossjohn
,
M. Parker
The EMBO journal
1999
Corpus ID: 16383781
Glutathione synthetase (GS) catalyses the production of glutathione from γ‐glutamylcysteine and glycine in an ATP‐dependent…
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Highly Cited
1981
Highly Cited
1981
Induction and repair of single-strand DNA breaks after X-irradiation of human fibroblasts deficient in glutathione.
M. Edgren
,
L. Révész
,
A. Larsson
International journal of radiation biology and…
1981
Corpus ID: 21625986
Using the unwinding technique in weak alkali, the induction and repair of DNA single-strand breaks was determined after aerobic…
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Highly Cited
1979
Highly Cited
1979
Protection of granulocytes by vitamin E in glutathione synthetase deficiency.
L. Boxer
,
J. Oliver
,
S. Spielberg
,
J. Allen
,
J. Schulman
The New England journal of medicine
1979
Corpus ID: 807314
The administration of vitamin E (alpha-tocopherol) was found to improve polymorphonuclear leukocyte function in an infant with…
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Highly Cited
1975
Highly Cited
1975
Regulation of gamma-glutamyl-cysteine synthetase by nonallosteric feedback inhibition by glutathione.
P. Richman
,
A. Meister
The Journal of biological chemistry
1975
Corpus ID: 2770962
Highly Cited
1974
Highly Cited
1974
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).
V. P. Wellner
,
R. Sekura
,
A. Meister
,
A. Larsson
Proceedings of the National Academy of Sciences…
1974
Corpus ID: 23817156
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria…
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Highly Cited
1972
Highly Cited
1972
-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia.
P. Konrad
,
F. Richards
,
W. Valentine
,
D. Paglia
The New England journal of medicine
1972
Corpus ID: 32426376
Abstract In some families with hemolytic anemia and a low level of reduced glutathione in erythrocytes, the disorder is…
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