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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Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: National Academy of Sciences 2013
Предметы:
Biological Sciences
Online-ссылка: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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