Article
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling.
Journal of cell science - 15 Jul 2008
Verbeek Dineke S, Goedhart Joachim, Bruinsma Laurie, Sinke Richard J, Reits Eric A
Abstract excerpt
Spinocerebellar ataxia type 14 (SCA14) is a neurodegenerative disorder caused by mutations in the neuronal-specific protein kinase C gamma (PKCgamma) gene. Since most mutations causing SCA14 are located in the PKCgamma C1B regulatory subdomain, we investigated the impact of three C1B mutations on the intracellular kinetics, protein conformation and kinase activity of PKCgamma in living cells. SCA14 mutant...
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