Analyses of variant acid β-glucosidases: effects of Gaucher disease mutations
B Liou, A Kazimierczuk, M Zhang, CR Scott… - Journal of Biological …, 2006 - ASBMB
Acid β-glucosidase (GCase) is a 497-amino acid, membrane-associated lysosomal exo-β-
glucosidase whose defective activity leads to the Gaucher disease phenotypes. To move
toward a structure/function map for disease mutations, 52 selected single amino acid
substitutions were introduced into GCase, expressed in an insect cell system, purified, and
characterized for basic kinetic, stability, and activator response properties. The variant
GCases from Gaucher disease patients and selected variant GCases from the mouse had …
glucosidase whose defective activity leads to the Gaucher disease phenotypes. To move
toward a structure/function map for disease mutations, 52 selected single amino acid
substitutions were introduced into GCase, expressed in an insect cell system, purified, and
characterized for basic kinetic, stability, and activator response properties. The variant
GCases from Gaucher disease patients and selected variant GCases from the mouse had …
