Article

Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation

2023-10-19

Abstract excerpt

The RNA exosome is a multi-subunit, evolutionarily conserved ribonuclease complex that is essential for processing, decay and surveillance of many cellular RNAs. Missense mutations in genes encoding the structural subunits of the RNA exosome complex cause a diverse range of diseases, collectively known as RNA exosomopathies, often involving neurological and developmental defects. The varied symptoms suggest that d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2bb43e32-44bd-5ddc-9da6-19f0e5147e13
DOI: 10.1101/2023.10.18.562946

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translationDOI 10.1101/2023.10.18.562946Read

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

A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.Semantic proximity Read

A Biallelic Variant of the RNA Exosome GeneEXOSC4Causes Translational Defects Associated with a Neurodevelopmental DisorderSemantic proximity Read

Systematic comparison of pathogenic variants of the RNA exosome gene EXOSC3/RRP40 in Saccharomyces cerevisiae reveals variant-specific functional consequencesSemantic proximity Read

A Budding Yeast Model for Human Disease Mutations in the EXOSC2 Cap Subunit of the RNA ExosomeSemantic proximity Read

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delaySemantic proximity Read

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

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weaknessSemantic proximity Read

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

Analysis of RNA Exosome Subunit Transcript Abundance Across Tissues: Implications for Neurological Disease PathogenesisSemantic proximity Read

The RNA exosome and RNA exosome-linked disease.Semantic proximity Read

Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.Semantic proximity Read