- Genes & Diseases,Volume 2, Issue 2,2014, Pages 108-132
- How genetic errors in GPCRs affect their function: Possible therapeutic strategies
- Henriette Stoy1, Vsevolod V. Gurevich2
- 1.University of Tübingen, Tübingen 72074, Germany;2.Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA
Activating and inactivating mutations in numerous human G protein-coupled receptors (GPCRs) are associated with a wide range of disease phenotypes. Here we use several class A GPCRs with a particularly large set of identified disease-associated mutations, many of which were biochemically characterized, along with known GPCR structures and current models of GPCR activation, to understand the molecular mechanisms yielding pathological phenotypes. Based on this mechanistic understanding we also propose different therapeutic approaches, both conventional, using small molecule ligands, and novel, involving gene therapy.
Activation; Agonist; Mutation; Gene therapy; Genetic disorder; GPCR
Copyright © 2014 Chongqing Medical University. Published by Elsevier B.V