Article

EXOSC3 S1-domain variants implicated in PCH1b alter RNA exosome cap subunit abundance and thermal stability disrupting rRNA processing and targeting of AU-rich mRNA

2025-06-01

Abstract excerpt

<h4>ABSTRACT</h4> Missense variants in EXOSC3, an RNA exosome subunit, have been identified in patients with PCH1b. We investigated three missense variants in the S1 domain of EXOSC3, including one variant of uncertain significance (VUS) and two pathogenic variants (hence S1 variants). EXOSC3 S1 variant cell lines were generated using CRISPR-Cas9 resulting in widespread proteome changes including decreases in som...

Topics

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

Identifiers and source

Literature Corpus work: 09ced6f6-517a-5e3c-b6fb-a5ed55156495
DOI: 10.1101/2025.05.31.657176

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

EXOSC3 S1-domain variants implicated in PCH1b alter RNA exosome cap subunit abundance and thermal stability disrupting rRNA processing and targeting of AU-rich mRNADOI 10.1101/2025.05.31.657176Read

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

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.Semantic proximity Read

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

The RNA Exosome and Human Disease.Semantic proximity Read

A Drosophila Model of Pontocerebellar Hypoplasia Reveals a Critical Role for the RNA Exosome in NeuronsSemantic proximity Read

A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.Semantic proximity Read

In vivo Characterization of the Critical Interaction between the RNA Exosome and the Essential RNA Helicase Mtr4 in Saccharomyces cerevisiaeSemantic proximity Read

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

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

Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.Semantic proximity Read