Protein kinase C[gamma], a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin

Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase Cγ (PKCγ). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension...

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Veröffentlicht in:	Human molecular genetics 2009-10, Vol.18 (19), p.3533
Hauptverfasser:	Asai, Hirohide, Hirano, Makito, Shimada, Keiji, Kiriyama, Takao, Furiya, Yoshiko, Ikeda, Masanori, Iwamoto, Takaaki, Mori, Toshio, Nishinaka, Kazuto, Konishi, Noboru, Udaka, Fukashi, Ueno, Satoshi
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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