期刊
BRAIN
卷 128, 期 -, 页码 436-442出版社
OXFORD UNIV PRESS
DOI: 10.1093/brain/awh378
关键词
SCA14; spinocerebellar ataxia; PKC gamma; Purkinje cells
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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