(Q42996992)

12 November 2017

Kinetic properties of missense mutations in patients with glutathione synthetase deficiency (English)

1 reference

12 November 2017

7

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12 November 2017

Njålsson R

1

1 reference

12 November 2017

Carlsson K

2

1 reference

12 November 2017

Olin B

3

1 reference

12 November 2017

Carlsson B

4

1 reference

12 November 2017

Whitbread L

5

1 reference

12 November 2017

Polekhina G

6

1 reference

12 November 2017

Norgren S

8

1 reference

12 November 2017

Mannervik B

9

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12 November 2017

Board PG

10

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12 November 2017

Larsson A

11

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12 November 2017

language of work or name

English

0 references

publication date

1 July 2000

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12 November 2017

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12 November 2017

349

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12 November 2017

Pt 1

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12 November 2017

275-279

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Discovery of a functional polymorphism in human glutathione transferase zeta by expressed sequence tag database analysis

12 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Molecular basis of glutathione synthetase deficiency and a rare gene permutation event

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Identification of an essential cysteine residue in human glutathione synthase

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Mutations in the glutathione synthetase gene cause 5-oxoprolinuria

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Sequencing and expression of a cDNA for human glutathione synthetase

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Covalent chromatography and salt-promoted thiophilic adsorption

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Glutathione synthetase. Purification from rat kidney and mapping of the substrate binding sites

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1221148

Tripeptide (Glutathione) Synthetase. Purification, Properties, and Mechanism of Action*

26 May 2018

1 reference

12 December 2020

Purification and characterization of glutathione synthetase from Escherichia coli B

1 reference

12 December 2020

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency

1 reference

12 December 2020

The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1042/0264-6021:3490275

Identifiers

DOI

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12 November 2017

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12 November 2017

PubMed publication ID

10861239

1 reference