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Article

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

EBioMedicine - 1 Aug 2023

Tano Vincent, Utami Kagistia Hana, Yusof Nur Amirah Binte Mohammad, Bégin Jocelyn, Tan Willy Wei Li, Pouladi Mahmoud A, Langley Sarah R

Abstract excerpt

BACKGROUND: In Huntington's disease (HD), a CAG repeat expansion mutation in the Huntingtin (HTT) gene drives a gain-of-function toxicity that disrupts mRNA processing. Although dysregulation of gene splicing has been shown in human HD post-mortem brain tissue, post-mortem analyses are likely confounded by cell type composition changes in late-stage HD, limiting the ability to identify dysregulation related to...

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Identifiers

PMID: 37481821
DOI: 10.1016/j.ebiom.2023.104720
PMCID: PMC10393612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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