Article

Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington’s disease

2022-12-01

Abstract excerpt

<h4>ABSTRACT</h4> In Huntington’s disease (HD), a CAG repeat expansion mutation in the HTT gene drives a gain-of-function toxicity that disrupts mRNA processing. Although widespread dysregulation of gene splicing in the striatum has been shown in human HD post-mortem brain tissue, post-mortem analyses are likely confounded by cell type composition changes due to neuronal loss and astrogliosis in late stage HD. T...

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Literature Corpus work: d8f092ae-af60-582a-b3e5-0c666c520ab0
DOI: 10.1101/2022.11.30.518612

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