Article
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease.
Chemistry & biology - 14 Aug 2014
Tan Yun Lei, Genereux Joseph C, Pankow Sandra, Aerts Johannes M F G, Yates John R, Kelly Jeffery W
Abstract excerpt
Gaucher's disease (GD) is caused by mutations that compromise β-glucocerebrosidase (GCase) folding in the endoplasmic reticulum (ER), leading to excessive degradation instead of trafficking, which results in insufficient lysosomal function. We hypothesized that ER GCase interacting proteins play critical roles in making quality control decisions, i.e., facilitating ER-associated degradation (ERAD) instead of...
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