Article
PRMT5 is required for full-length <i>HTT</i> expression by repressing multiple proximal intronic polyadenylation sites
2024-03-14
Abstract excerpt
Expansion of the CAG trinucleotide repeat tract in exon 1 of the Huntingtin ( HTT ) gene above a threshold of ∼36 repeats causes Huntington’s disease (HD) through the expression of a polyglutamine-expanded form of the HTT protein. This mutation triggers wide-ranging cellular and biochemical pathologies leading to cognitive, motor, and psychiatric symptoms in HD patients. As accurate splicing is required to produ...
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Identifiers and source
- Literature Corpus work
- f6d18328-1c42-5199-940f-13feadc4ff69
- DOI
- 10.1101/2024.03.14.584861
