Article
Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
ACS chemical biology - 18 Feb 2011
Wang Fan, Agnello Giulia, Sotolongo Natasha, Segatori Laura
Abstract excerpt
Gaucher's disease is caused by deficiency of lysosomal glucocerebrosidase (GC) activity and accumulation of GC substrate, glucosylceramide. A number of point mutations in GC encoding gene have been reported to destabilize the enzyme native structure, resulting in protein misfolding and degradatio...
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