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Article

Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.

RNA (New York, N.Y.) - 1 Apr 2017

Gillespie Abby, Gabunilas Jason, Jen Joanna C, Chanfreau Guillaume F

Abstract excerpt

The RNA exosome is a conserved multiprotein complex that achieves a large number of processive and degradative functions in eukaryotic cells. Recently, mutations have been mapped to the gene encoding one of the subunits of the exosome, EXOSC3 (yeast Rrp40p), which results in pontocerebellar hypoplasia with motor neuron degeneration in human patients. However, the molecular impact of these mutations in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28053271
DOI: 10.1261/rna.060004.116
PMCID: PMC5340910

Genes

EXOSC3

Variants

Provenance

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Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.PMID 28053271Read ↗

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A Biallelic Variant of the RNA Exosome Gene<i>EXOSC4</i>Causes Translational Defects Associated with a Neurodevelopmental DisorderSemantic proximity Read ↗

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