Article

Protein Kinase Cγ Mutations Drive Spinocerebellar Ataxia Type 14 by Impairing Autoinhibition

2021-06-24

Abstract excerpt

Spinocerebellar ataxia type 14 (SCA14) is a neurodegenerative disease caused by germline variants in the diacylglycerol (DG)/Ca 2+ -regulated protein kinase C gamma (PKCγ), leading to Purkinje cell degeneration and progressive cerebellar dysfunction. The majority of the approximately 50 identified variants cluster to the DG-sensing C1 domains. Here, we use a FRET- based activity reporter to show that ataxia-assoc...

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Literature Corpus work: e97df349-900f-5aa2-a5fc-d4de97993b66
DOI: 10.1101/2021.06.24.449810

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