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Comparative study of naturally occurring huntingtin fragments in Drosophila points to exon 1 as the most pathogenic species in Huntington's disease

Although Huntington's disease is caused by the expansion of a CAG triplet repeat within the context of the 3144-amino acid huntingtin protein (HTT), studies reveal that N-terminal fragments of HTT containing the expanded PolyQ region can be produced by proteolytic processing and/or aberrant spl...

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Publicado en:Hum Mol Genet
Autores principales: Barbaro, Brett A., Lukacsovich, Tamas, Agrawal, Namita, Burke, John, Bornemann, Doug J., Purcell, Judith M., Worthge, Shane A., Caricasole, Andrea, Weiss, Andreas, Song, Wan, Morozova, Olga A., Colby, David W., Marsh, J. Lawrence
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4834878/
https://ncbi.nlm.nih.gov/pubmed/25305076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu504
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