Varaico: Literature-Extracted Genetic Variants

Gene:GCLC
Variant:p.P158L
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GCLC

NM_001498.4:p.P158L

Associated Papers

Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia.

Al-Hatou M et al.

Molecular Syndromology, 2024

Enzymatic defects underlying hereditary glutamate cysteine ligase deficiency are mitigated by association of the catalytic and regulatory subunits.

Willis MN et al.

Biochemistry, 2011

Mechanistic details of glutathione biosynthesis revealed by crystal structures of Saccharomyces cerevisiae glutamate cysteine ligase.

Biterova EI et al.

The Journal of Biological Chemistry, 2009

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.

Mañú Pereira M et al.

Haematologica, 2007

Interaction between the catalytic and modifier subunits of glutamate-cysteine ligase.

Yang Y et al.

Biochemical Pharmacology, 2007

Oxidative stress in inborn errors of metabolism: lessons from glutathione deficiency.

Ristoff E et al.

Journal of Inherited Metabolic Disease, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."