The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

Abstract We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein. The level of this read-through product is proportional to CAG repeat leng...

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Autores principales: Andreas Neueder, Christian Landles, Rhia Ghosh, David Howland, Richard H. Myers, Richard L. M. Faull, Sarah J. Tabrizi, Gillian P. Bates
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/880697bfb72a45d88a4cbeba52640f2d
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