Citations for
The role of the glycine triad in human glutathione synthetase.
Dinescu A, Brown TR, Barelier S, Cundari TR, Anderson ME.
Biochem Biophys Res Commun 400(4):511-6. Epub 2010 Aug 26. 2010
Alternative RNA splicing in expression of the glutathione synthetase gene in human cells.
Uchida M, Sugaya M, Kanamaru T, Hisatomi H.
Mol Biol Rep 37(4):2105-9. Epub 2009 Aug 12. 2010
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Burstedt MS, Ristoff E, Larsson A, Wachtmeister L.
Ophthalmology 116(2):324-31. Epub 2008 Dec 27. 2009
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
Ristoff E, Burstedt M, Larsson A, Wachtmeister L.
J Inherit Metab Dis 30(1):102. Epub 2007 Jan 5. 2007
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
Njalsson R, Ristoff E, Carlsson K, Winkler A, Larsson A, Norgren S.
Hum Genet 116(5):384-9. Epub 2005 Feb 17. 2005
Cloning and characterization of the human glutathione synthetase 5'-flanking region.
Lee TD, Yang H, Whang J, Lu SC.
Biochem J 390(Pt 2):521-8. 2005
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Njalsson R, Carlsson K, Bhansali V, Luo JL, Nilsson L, Ladenstein R, Anderson M, Larsson A, Norgren S.
Biochem J 381(Pt 2):489-94. 2004
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
Al-Jishi E, et al.
Clin Genet 55(6):444-9. 1999
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P.
Hum Mol Genet 6(7):1147-52. 1997
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Shi ZZ, et al.
Nat Genet 14 : 361-365. 1996
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.
Webb GC, et al.
Genomics 30 : 617-619. 1995
Sequencing and expression of a cDNA for human glutathione synthetase.
Gali RR, et al.
Biochem J 310 : 353-358. 1995