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

@article{Ron2002ProteotoxicityIT,
  title={Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse.},
  author={David Ron},
  journal={The Journal of clinical investigation},
  year={2002},
  volume={109 4},
  pages={443-5}
}
  • 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
57 Citations
30 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 57 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 30 references

Targeted disruption

  • S Oyadomari
  • 2002

Targeted disruption of the Chop gene delays endoplasmic reticulum stress – mediated diabetes

  • S. Oyadomari
  • J . Clin . Invest .
  • 2002

Diabetes mellitus and excocrine pancreatic dysfunction in Perk–/– mice reveals a role for translational control in survival of secretory cells

  • H Harding
  • Mol . Cell .
  • 2001

Similar Papers

Loading similar papers…