Article
Functional and structural basis of a hypermorphic TRPC3 variant.
Science advances - 27 Mar 2026
Bell Briar, Jaramillo-Granada Angela M, Romero Luis O, Gutierrez Irene A, Mallampalli Venkata K P S, Fan Guizhen, Varma Sameer, Baker Matthew L, Serysheva Irina I, Vásquez Valeria, Cordero-Morales Julio F
Abstract excerpt
Cerebellar ataxias are characterized by impaired motor coordination resulting from neuronal dysfunction within the cerebellum. The mechanisms underlying this pathology and its cerebellar-specific neurodegeneration remain unknown. We uncover how a gain-of-function canonical transient receptor potential member 3 (TRPC3) mutation, coupled with a cerebellum-specific isoform, stabilizes the channel's open state,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.