Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.
Brain
; 128(Pt 2): 436-42, 2005 Feb.
Article
en En
| MEDLINE
| ID: mdl-15618281
ABSTRACT
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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Bases de datos:
MEDLINE
Asunto principal:
Proteína Quinasa C
/
Mutación Missense
/
Ataxias Espinocerebelosas
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Brain
Año:
2005
Tipo del documento:
Article
País de afiliación:
Estados Unidos