Article
Sex-specific disruptions in PKCγ signaling in a mouse model of spinocerebellar ataxia type 14.
JCI insight - 22 May 2026
Wolfe Sarah A, Ma Yuliang, Yaron-Barir Tomer M, Chang Carly, Pilo Caila A, Ghassemian Majid, Roberts Amanda J, Lee Sang Ryeul, Henson Benjamin A, Jepsen Kristen, Johnson Jared L, Cantley Lewis C, Taylor Susan S, Gorrie George, Newton Alexandra C
Abstract excerpt
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disease caused by mutations in the gene encoding protein kinase C γ (PKCγ), a Ca2+- and diacylglycerol-dependent Ser/Thr kinase dominantly expressed in cerebellar Purkinje cells. These mutations impair autoinhibitory constraints to increase the basal activity of the kinase, resulting in deficits in the cerebellum that are not...
Topics
- Animals
- Mice
- Female
- Disease Models, Animal
- Protein Kinase C
- Male
- Signal Transduction
- Humans
- Spinocerebellar Ataxias
- Cerebellum