Article
Insights into the structural biology of Gaucher disease.
Experimental neurology - 1 Dec 2017
Smith Laura, Mullin Stephen, Schapira Anthony H V
Abstract excerpt
Gaucher disease, the most common lysosomal storage disorder, is caused by mutations in the gene encoding the acid-β-glucosidase lysosomal hydrolase enzyme that cleaves glucocerebroside into glucose and ceramide. Reduced enzyme activity and impaired structural stability arise due to >300 known disease-causing mutations. Several of these mutations have also been associated with an increased risk of Parkinson...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.