作者: Henriette Stoy , Vsevolod V. Gurevich
DOI: 10.1016/J.GENDIS.2015.02.005
关键词: Phenotype 、 Genetic enhancement 、 Small molecule 、 Mutation 、 Medicine 、 Genetics 、 Receptor 、 G protein-coupled receptor 、 Function (biology) 、 Genetic disorder
摘要: 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 particularly large set identified disease-associated mutations, many which were biochemically characterized, along known GPCR structures current models activation, to understand the molecular mechanisms yielding pathological Based on this mechanistic understanding also propose different therapeutic approaches, both conventional, using small molecule ligands, novel, involving gene therapy.