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Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.

G3 (Bethesda, Md.) - 17 Apr 2025

Ahammed Khondakar Sayef, Fasken Milo B, Corbett Anita H, van Hoof Ambro

Abstract excerpt

The RNA exosome is an evolutionarily conserved, multiprotein complex that is the major RNase in 3' processing and degradation of a wide range of RNAs in eukaryotes. Single amino acid changes in RNA exosome subunits cause rare genetic diseases collectively called exosomopathies. However, distinguishing disease-causing variants from nonpathogenic ones remains challenging, and the mechanism by which these variants...

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Share to Exosome Multienzyme Ribonuclease Complex
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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: 39982806
DOI: 10.1093/g3journal/jkaf036
PMCID: PMC12005145

Genes

EXOSC2
EXOSC4
EXOSC7
EXOSC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.PMID 39982806Read ↗

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