Article

EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery

2026-01-28

Abstract excerpt

Pathogenic variants in EXOSC3, a noncatalytic subunit of the RNA exosome, cause pontocerebellar hypoplasia type 1B (PCH1B), yet substantial variability in disease severity is observed among individuals carrying different EXOSC3 alleles. The molecular mechanisms of RNA exosome dysfunction in individuals carrying EXOSC3 p.G191 variants remains unresolved. To address this, we generated CRISPR/Cas9-engineered human ce...

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Literature Corpus work: 74e123f1-7b91-5e7d-b85a-847d550cfd6d
DOI: 10.64898/2026.01.26.701775

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