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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: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
2013
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| Schlagworte: | |
| 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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