Article
Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations.
The Journal of biological chemistry - 25 Apr 1990
Grace M E, Graves P N, Smith F I, Grabowski G A
Abstract excerpt
Analyses of catalytic properties and inhibitor binding were conducted to investigate the molecular basis of active site function of human acid beta-glucosidases (EC 3.2.1.45) expressed from normal and Gaucher disease Type 1 alleles. Comparative studies were conducted with enzymes expressed from n...
Topics
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- DNA
- Europe
- Fibroblasts
- Gaucher Disease
- Genetic Vectors
- Genotype
- Glucosidases
- Glucosylceramidase
- Humans
- Jews
- Kinetics
- Molecular Sequence Data