Article
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.
Science signaling - 27 Sept 2022
Pilo Caila A, Baffi Timothy R, Kornev Alexandr P, Kunkel Maya T, Malfavon Mario, Chen Dong-Hui, Rossitto Leigh-Ana, Chen Daniel X, Huang Liang-Chin, Longman Cheryl, Kannan Natarajan, Raskind Wendy H, Gonzalez David J, Taylor Susan S, Gorrie George, Newton Alexandra C
Abstract excerpt
Spinocerebellar ataxia type 14 (SCA14) is a neurodegenerative disease caused by germline variants in the diacylglycerol (DAG)/Ca2+-regulated protein kinase Cγ (PKCγ), leading to Purkinje cell degeneration and progressive cerebellar dysfunction. Most of the identified mutations cluster in the DAG-sensing C1 domains. Here, we found with a FRET-based activity reporter that SCA14-associated PKCγ mutations, including...
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