ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease.


Inability to properly degrade unfolded or misfolded proteins in the endoplasmic reticulum (ER) leads to ER stress and unfolded protein response. This is particularly important in cases of diseases in which the mutant proteins undergo ER-associated degradation (ERAD), as in Gaucher disease (GD). GD is a genetic, autosomal recessive disease that results from… (More)
DOI: 10.1093/hmg/dds535


7 Figures and Tables

Slides referencing similar topics