Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse.

  title={Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse.},
  author={David Ron},
  journal={The Journal of clinical investigation},
  volume={109 4},
  • David Ron
  • Published 2002 in The Journal of clinical investigation
Mutations that impair polypeptide folding commonly result in an unstable and hypofunctional gene product. Their phenotype reflects this loss of function, and the resulting genetic disorder is usually transmitted as a recessive trait. Common forms of cystic fibrosis, hemophilia, and familial hypercholesterolemia are examples of this genetic mechanism in action. A second class of mutations (so-called gain-of-function mutations) encodes proteins with new functions, whose associated disorders are… CONTINUE READING
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