Article
X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.
The Journal of biological chemistry - 7 Jan 2011
Wei Ronnie R, Hughes Heather, Boucher Susan, Bird Julie J, Guziewicz Nicholas, Van Patten Scott M, Qiu Huawei, Pan Clark Qun, Edmunds Tim
Abstract excerpt
Gaucher disease is caused by mutations in the enzyme acid β-glucosidase (GCase), the most common of which is the substitution of serine for asparagine at residue 370 (N370S). To characterize the nature of this mutation, we expressed human N370S GCase in insect cells and compared the x-ray structure and biochemical properties of the purified protein with that of the recombinant human GCase (imiglucerase,...
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