Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

We have identified a large expansion of an ATTCT repeat within intron 9 of ATXN10 on chromosome 22q13.31 as the genetic mutation of spinocerebellar ataxia type 10 (SCA10). Our subsequent studies indicated that neither a gain nor a loss of function of ataxin 10 is likely the major pathogenic mechanis...

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Detalhes bibliográficos
Main Authors: White, Misti C., Gao, Rui, Xu, Weidong, Mandal, Santi M., Lim, Jung G., Hazra, Tapas K., Wakamiya, Maki, Edwards, Sharon F., Raskin, Salmo, Teive, Hélio A. G., Zoghbi, Huda Y., Sarkar, Partha S., Ashizawa, Tetsuo
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2883596/
https://ncbi.nlm.nih.gov/pubmed/20548952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000984
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