Associated Papers
Structure-based pathogenicity relationship identifier for predicting effects of single missense variants and discovery of higher-order cancer susceptibility clusters of mutations.
Wang B et al.
Briefings in Bioinformatics, 2023
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up.
Ekuni S et al.
The American Journal of Case Reports, 2023
Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Wu X et al.
Frontiers in Pediatrics, 2023
Genetic Mutations in the S-loop of Human Glutathione Synthetase: Links Between Substrate Binding, Active Site Structure and Allostery.
Ingle BL et al.
Computational and Structural Biotechnology Journal, 2019
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
26495027 (PubMed )
Supplement: 124630.f1.zip › mat.124630.v2 › Table_S2.xlsx › Phosphorylation
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Njålsson R et al.
The Biochemical Journal, 2004
Long-term clinical outcome in patients with glutathione synthetase deficiency.
Ristoff E et al.
The Journal of Pediatrics, 2001
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL et al.
British Journal of Haematology, 2001
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Dahl N et al.
Human Molecular Genetics, 1997
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