(Q24298668)

English

A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production

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scholarly article

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A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production (English)

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Glutamate-cysteine ligase catalytic subunit

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GOA release 2020-03-11

glutathione biosynthetic process

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GOA release 2020-03-11

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author name string

David Hamilton

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Jian Hui Wu

2

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Moulay Alaoui-Jamali

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Gerald Batist

4

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language of work or name

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publication date

15 July 2003

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102

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2

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725-30

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Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency

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https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

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Evaluation of fluorescent dyes for measuring intracellular glutathione content in primary cultures of human neurons and neuroblastoma SH-SY5Y.

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

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Monochlorobimane fluorometric method to measure tissue glutathione

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

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Knockout of the mouse glutamate cysteine ligase catalytic subunit (Gclc) gene: embryonic lethal when homozygous, and proposed model for moderate glutathione deficiency when heterozygous

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

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HPV immortalization of human oral epithelial cells: a model for carcinogenesis

1 reference

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Prediction of protein secondary structure at better than 70% accuracy

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https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

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Comparative protein modelling by satisfaction of spatial restraints

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

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Expression and purification of human gamma-glutamylcysteine synthetase

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

inferred from DOI database lookup

The use of monochlorobimane to determine hepatic GSH levels and synthesis

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

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Quantitation of the diastereoisomers of L-buthionine-(R,S)-sulfoximine in human plasma: a validated assay by capillary electrophoresis

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

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The P-loop--a common motif in ATP- and GTP-binding proteins

1 reference

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based on heuristic

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Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies

1 reference

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based on heuristic

inferred from DOI database lookup

γ-Glutamyl-cysteine synthetase deficiency. A cause of hereditary hemolytic anemia

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

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Long-term clinical outcome in patients with glutathione synthetase deficiency

1 reference

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Glutathione synthesis is essential for mouse development but not for cell growth in culture

1 reference

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based on heuristic

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Characterization of Trypanosoma brucei gamma-glutamylcysteine synthetase, an essential enzyme in the biosynthesis of trypanothione (diglutathionylspermidine).

1 reference

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Trypanosoma brucei gamma-glutamylcysteine synthetase. Characterization of the kinetic mechanism and the role of Cys-319 in cystamine inactivation.

1 reference

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Regulation of gamma-glutamylcysteine synthetase subunit gene expression: insights into transcriptional control of antioxidant defenses

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

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Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

inferred from DOI database lookup

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

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Evidence for functionally significant polymorphism of human glutamate cysteine ligase catalytic subunit: association with glutathione levels and drug resistance in the National Cancer Institute tumor cell line panel

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

inferred from DOI database lookup

Escherichia coli B gamma-glutamylcysteine synthetase: modification, purification, crystallization and preliminary crystallographic analysis

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

inferred from DOI database lookup

Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic mapping of GLCLC, the human gene encoding the catalytic subunit of gamma-glutamyl-cysteine synthetase, to chromosome band 6p12 and characterization of a polymorphic trinucleotide repeat within its 5' untranslated region

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2002-11-3622

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1182/BLOOD-2002-11-3622

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