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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Bibliographic Details
Main Authors: Andreas Neueder, Christian Landles, Rhia Ghosh, David Howland, Richard H. Myers, Richard L. M. Faull, Sarah J. Tabrizi, Gillian P. Bates
Format: Article
Language:English
Published: Nature Portfolio 2017-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-01510-z

Internet

https://doi.org/10.1038/s41598-017-01510-z

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