ER stress and the unfolded protein response

M Schröder, RJ Kaufman - Mutation Research/Fundamental and Molecular …, 2005 - Elsevier
Conformational diseases are caused by mutations altering the folding pathway or final
conformation of a protein. Many conformational diseases are caused by mutations in
secretory proteins and reach from metabolic diseases, eg diabetes, to developmental and
neurological diseases, eg Alzheimer's disease. Expression of mutant proteins disrupts
protein folding in the endoplasmic reticulum (ER), causes ER stress, and activates a
signaling network called the unfolded protein response (UPR). The UPR increases the …