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

Hamilton, David

A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production. [electronic resource] - Blood Jul 2003 - 725-30 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0006-4971

10.1182/blood-2002-11-3622 doi


Amino Acid Substitution
Animals
Binding Sites
Catalytic Domain--genetics
Cells, Cultured--enzymology
Codon--genetics
Fibroblasts--enzymology
Glutamate-Cysteine Ligase--chemistry
Glutathione--biosynthesis
Homozygote
Humans
Kinetics
Mice
Mice, Knockout
Models, Molecular
Mutation, Missense
Protein Conformation
Recombinant Fusion Proteins--metabolism
Structure-Activity Relationship
Transfection