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.
Stoy, H., & Gurevich, V. V. (2015, June 1). How genetic errors in GPCRs affect their function: Possible therapeutic strategies. Genes and Diseases. Chongqing yi ke da xue, di 2 lin chuang xue yuan Bing du xing gan yan yan jiu suo. https://doi.org/10.1016/j.gendis.2015.02.005