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Article

Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.

Brain : a journal of neurology - 1 Feb 2024

Shorrock Hannah K, Lennon Claudia D, Aliyeva Asmer, Davey Emily E, DeMeo Cristina C, Pritchard Caroline E, Planco Lori, Velez Jose M, Mascorro-Huamancaja Alexandra, Shin Damian S, Cleary John D, Berglund J Andrew

Abstract excerpt

The spinocerebellar ataxias (SCAs) are a group of dominantly inherited neurodegenerative diseases, several of which are caused by CAG expansion mutations (SCAs 1, 2, 3, 6, 7 and 12) and more broadly belong to the large family of over 40 microsatellite expansion diseases. While dysregulation of alternative splicing is a well defined driver of disease pathogenesis across several microsatellite diseases, the...

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PMID: 37776516
DOI: 10.1093/brain/awad329
PMCID: PMC10834251

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