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Article

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.

Life science alliance - 1 Aug 2020

Müller Juliane S, Burns David T, Griffin Helen, Wells Graeme R, Zendah Romance A, Munro Benjamin, Schneider Claudia, Horvath Rita

Abstract excerpt

The RNA exosome is a ubiquitously expressed complex of nine core proteins (EXOSC1-9) and associated nucleases responsible for RNA processing and degradation. Mutations in EXOSC3, EXOSC8, EXOSC9, and the exosome cofactor RBM7 cause pontocerebellar hypoplasia and motor neuronopathy. We investigated the consequences of exosome mutations on RNA metabolism and cellular survival in zebrafish and human cell models. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32527837
DOI: 10.26508/lsa.202000678
PMCID: PMC7295610

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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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