Molecular Basis of Reduced Glucosylceramidase Activity in the Most Common Gaucher Disease Mutant, N370S

Mutations for Gaucher Disease Confer High Susceptibility to Parkinson Disease

(2009) Jun Mitsui et al.   ARCHIVES OF NEUROLOGY

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison withN-(n-nonyl)Deoxynojirimycin

(2009) Zhuo Luan et al.   CHEMBIOCHEM

Characterization of gene-activated human acid- -glucosidase: Crystal structure, glycan composition, and internalization into macrophages

(2009) B. Brumshtein et al.   GLYCOBIOLOGY

Rational Design and Synthesis of Highly Potent Pharmacological Chaperones for Treatment of N370S Mutant Gaucher Disease

(2009) Guan-Nan Wang et al.   JOURNAL OF MEDICINAL CHEMISTRY

Participation of asparagine 370 and glutamine 235 in the catalysis by acid β-glucosidase: The enzyme deficient in Gaucher disease

(2009) Benjamin Liou et al.   MOLECULAR GENETICS AND METABOLISM

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Acid β-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy

(2008) Yaacov Kacher et al.   BIOLOGICAL CHEMISTRY

Isofagomine Induced Stabilization of Glucocerebrosidase

(2008) Gregory J. Kornhaber et al.   CHEMBIOCHEM

Predicting free energy changes using structural ensembles

(2008) Alexander Benedix et al.   NATURE METHODS