Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

Huntington disease (HD) is a devastating, late-onset, inherited neurodegenerative disorder that manifests with personality changes, movement disorders, and cognitive decline. It is caused by a CAG repeat expansion in exon 1 of the HTT gene that translates to a polyglutamine tract in the huntingtin p...

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Detalhes bibliográficos
Main Authors: Sathasivam, Kirupa, Neueder, Andreas, Gipson, Theresa A., Landles, Christian, Benjamin, Agnesska C., Bondulich, Marie K., Smith, Donna L., Faull, Richard L. M., Roos, Raymund A. C., Howland, David, Detloff, Peter J., Housman, David E., Bates, Gillian P.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3568346/
https://ncbi.nlm.nih.gov/pubmed/23341618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1221891110
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