Inherited diseases involving g proteins and g protein-coupled receptors.

  title={Inherited diseases involving g proteins and g protein-coupled receptors.},
  author={Allen M. Spiegel and Lee S. Weinstein},
  journal={Annual review of medicine},
Heterotrimeric G proteins couple seven-transmembrane receptors for diverse extracellular signals to effectors that generate intracellular signals altering cell function. Mutations in the gene encoding the alpha subunit of the G protein-coupling receptors to stimulation of adenylyl cyclase cause developmental abnormalities of bone, as well as hormone resistance (pseudohypoparathyroidism caused by loss-of-function mutations) and hormone hypersecretion (McCune-Albright syndrome caused by gain-of… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 70 extracted citations


Publications referenced by this paper.
Showing 1-10 of 49 references

Pseudohypoparathyroidism. In The Metabolic and Molecular Bases of Inherited Disease, ed

  • AM Spiegel, LS Weinstein
  • 2001
Highly Influential
6 Excerpts

G protein β3 subunit 825T allele carriage and risk of coronary artery disease

  • N Von Beckerath, Y Schusterschitz, Y Koch
  • Atherosclerosis
  • 2003
1 Excerpt

Similar Papers

Loading similar papers…