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

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 length and is...

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Vydáno v:Sci Rep
Hlavní autoři: Neueder, Andreas, Landles, Christian, Ghosh, Rhia, Howland, David, Myers, Richard H., Faull, Richard L. M., Tabrizi, Sarah J., Bates, Gillian P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5431000/
https://ncbi.nlm.nih.gov/pubmed/28465506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-01510-z
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