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- W2891053544 abstract "Huntington’s disease is caused by a CAG repeat expansion in exon 1 of the HTT gene. We have previously shown that exon 1 HTT does not always splice to exon 2 producing a small transcript (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein. The mechanisms by which this incomplete splicing occurs are unknown. Here, we have generated a novel minigene system that recapitulates the CAG repeat-length dependence of HTTexon1 production, and has allowed us to define the regions of intron 1 necessary for incomplete splicing. We show that manipulation of the expression levels of the splicing factor SRSF6, predicted to bind CAG repeats, modulates this aberrant splicing event and also demonstrate that RNA polymerase II transcription speed regulates the levels of HTTexon1 production. Understanding the mechanisms by which this pathogenic exon 1 HTT is generated will provide the basis for the development of strategies to prevent its production." @default.
- W2891053544 created "2018-09-27" @default.
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- W2891053544 date "2018-09-01" @default.
- W2891053544 modified "2023-09-27" @default.
- W2891053544 title "A03 Regulatory mechanisms of incomplete HTT MRNA splicing in huntington’s disease" @default.
- W2891053544 doi "https://doi.org/10.1136/jnnp-2018-ehdn.3" @default.
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