How genetic errors in GPCRs affect their function: Possible therapeutic strategies

作者: Henriette Stoy , Vsevolod V. Gurevich

DOI: 10.1016/J.GENDIS.2015.02.005

关键词: PhenotypeGenetic enhancementSmall moleculeMutationMedicineGeneticsReceptorG protein-coupled receptorFunction (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.

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