Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.
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DOI：
10.1093/brain/awh378
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发表时间：
2004-12
期刊：
影响因子：
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通讯作者：
D. Verbeek;M. Knight;G. Harmison;K. Fischbeck;Brian W. Howell
中科院分区：
文献类型：
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作者：
D. Verbeek;M. Knight;G. Harmison;K. Fischbeck;Brian W. Howell
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.
