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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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2013
Schlagworte:
Biological Sciences
Online Zugang: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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