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Article

Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration.

Cell - 20 Jan 2012

Jia Yichang, Mu John C, Ackerman Susan L

Abstract excerpt

Although uridine-rich small nuclear RNAs (U-snRNAs) are essential for pre-mRNA splicing, little is known regarding their function in the regulation of alternative splicing or of the biological consequences of their dysfunction in mammals. Here, we demonstrate that mutation of Rnu2-8, one of the mouse multicopy U2 snRNA genes, causes ataxia and neurodegeneration. Coincident with the observed pathology, the level...

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Identifiers

PMID: 22265417
DOI: 10.1016/j.cell.2011.11.057
PMCID: PMC3488875

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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