Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting | Zendy

Dineke S. Verbeek | Zendy

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Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting

Author(s) -

Dineke S. Verbeek

Publication year - 2004

Publication title -

brain

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awh378

Subject(s) - spinocerebellar ataxia , microbiology and biotechnology , mutant , mutation , membrane protein , missense mutation , biology , protein kinase a , gene , kinase , genetics , membrane

The protein kinase C gamma (PKCgamma) gene is mutated in spinocerebellar ataxia type 14 (SCA14). In this study, we investigated the effects of two SCA14 missense mutations, G118D and C150F, on PKCgamma function. We found that these mutations increase the intrinsic activity of PKCgamma. Direct visualization of labelled PKCgamma in living cells demonstrates that the mutant protein translocates more rapidly to selected regions of the plasma membrane in response to Ca2+ influx. These results point to specific alterations in mutant PKCgamma function that could lead to the selective neuronal degeneration of SCA14.

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