Mice carrying the human dopamine D2 receptor pathogenic mutation p.Met374Arg exhibit hyperactivity and aberrant D2 receptor function.

Abstract excerpt

Two human dopamine D2 receptor mutations cause dominant hyperkinetic movement disorders. The phenotype of carriers of the DRD2 variant c.634A>T, p.Ile212Phe (D2-I212F) is less severe than that of carriers of the variant c.1121 T>G, p.Met374Arg (D2-M6.36R). Both are gain-of-function mutations with respect to G protein-mediated signaling; however, D2-M6.36R exhibits greater gain-of-function than D2-I212F,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Dopaminergic Neurons
• Share to Gain of Function Mutation