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Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts

Polyglutamine (polyQ) disorders are inherited neurodegenerative conditions defined by a common pathogenic CAG repeat expansion leading to a toxic gain-of-function of the mutant protein. Consequences of this toxicity include activation of heat-shock proteins (HSPs), impairment of the ubiquitin-protea...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Scholefield, Janine, Watson, Lauren, Smith, Danielle, Greenberg, Jacquie, Wood, Matthew JA
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231408/
https://ncbi.nlm.nih.gov/pubmed/24667781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.39
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