Article
Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
ACS chemical biology - 23 May 2006
Sawkar Anu R, Schmitz Martina, Zimmer Klaus-Peter, Reczek David, Edmunds Tim, Balch William E, Kelly Jeffery W
Abstract excerpt
Point mutations in the lysosomal hydrolase, glucocerebrosidase (GC), can cause Gaucher disease, a common lysosomal storage disease. Several clinically important GC mutations impede folding in the endoplasmic reticulum (ER) and target these enzymes for ER-associated degradation (ERAD). The removal of these misfolded proteins decreases the lysosomal concentration of GC, which results in glucosylceramide...
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