Back to search

Article

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

2023-10-28

Abstract excerpt

<h4>ABSTRACT</h4> The RNA exosome is an evolutionarily conserved complex required for both precise RNA processing and decay. Mutations in EXOSC genes encoding structural subunits of the complex are linked to several autosomal recessive disorders. Here, we describe a missense allele of the EXOSC4 gene, which causes a collection of clinical features in two affected siblings. This missense mutation (NM_019037.3: exon...

Topics

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

Identifiers and source

Literature Corpus work
7781c392-f3d5-5dee-9f2b-1c35b0126309
DOI
10.1101/2023.10.24.23297197
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
A Biallelic Variant of the RNA Exosome Gene<i>EXOSC4</i>Causes Translational Defects Associated with a Neurodevelopmental DisorderDOI 10.1101/2023.10.24.23297197
A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.Semantic proximity
Systematic comparison of pathogenic variants of the RNA exosome gene <i>EXOSC3/RRP40</i> in <i>Saccharomyces cerevisiae</i> reveals variant-specific functional consequencesSemantic proximity
Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translationSemantic proximity
Biallelic protein truncating <i>EXOSC6</i> variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delaySemantic proximity
Biallelic variants in the RNA exosome gene <i>EXOSC5</i> are associated with developmental delays, short stature, cerebellar hypoplasia and motor weaknessSemantic proximity
A Budding Yeast Model for Human Disease Mutations in the <i>EXOSC2</i> Cap Subunit of the RNA ExosomeSemantic proximity
Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.Semantic proximity
The RNA exosome and RNA exosome-linked disease.Semantic proximity
A <i>Drosophila</i> Model of Pontocerebellar Hypoplasia Reveals a Critical Role for the RNA Exosome in NeuronsSemantic proximity
Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.Semantic proximity
Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.Semantic proximity
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.Semantic proximity
Select a neighboring publication to make it the new centre.