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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883596/
https://www.ncbi.nlm.nih.gov/pubmed/20548952
http://dx.doi.org/10.1371/journal.pgen.1000984

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