Evidence map›Paper›PMID 40246537›Full record

ArticleRNA (New York, N.Y.)2025

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

Maria C Sterrett, Lauryn A Cureton, Lauren N Cohen, Ambro van Hoof, Sohail Khoshnevis, Milo B Fasken, Anita H Corbett, Homa Ghalei

Abstract readComparative Study
In one paragraph

Article in RNA (New York, N.Y.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Built differently or defective: can RNA exosomopathies cause ribosome heterogeneity?Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025
    Review
  5. Article
  6. Article
  7. A Biallelic Variant of the RNA Exosome GenemedRxiv : the preprint server for health sciences · 2023
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Maria C SterrettDepartment of Biology, Emory University, Atlanta, Georgia 30322, USA.
Lauryn A CuretonGenetics and Molecular Biology Graduate Program, Emory University, Atlanta, Georgia 30322, USA.
Lauren N CohenDepartment of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Ambro van HoofDepartment of Microbiology and Molecular Genetics, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Sohail KhoshnevisDepartment of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
Milo B FaskenDepartment of Biology, Emory University, Atlanta, Georgia 30322, USA.
Anita H CorbettDepartment of Biology, Emory University, Atlanta, Georgia 30322, USA acorbe2@emory.edu hghalei@emory.edu.ORCID 0000-0002-0461-6895
Homa GhaleiDepartment of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA acorbe2@emory.edu hghalei@emory.edu.ORCID 0000-0003-0168-4654

Funding

Biogenesis of macromolecular machines for post-transcriptional regulation of translationR35GM138123 · NIGMS · EMORY UNIVERSITY · PI Homa Ghalei · 2020 to 2026
$3.0M
RNAse functions in post-transcriptional gene regulationR35GM141710 · NIGMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI VAN HOOF, AMBRO · 2021 to 2025
$2.4M
Genetics Predoctoral Training ProgramT32GM149422 · NIGMS · EMORY UNIVERSITY · PI TAMARA J. CASPARY · 2023 to 2026
$2.2M
Insight Into The RNA Processing And Decay Pathways Critical For Proper Neuronal Development And Function Through Focus On Mutations That Cause Pontocerebellar HypoplasiaR01GM130147 · NIGMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CORBETT, ANITA H., VAN HOOF, AMBRO · 2018 to 2021
$1.4M
A Budding Yeast Model for Human Disease-Mutations in the RNA ExosomeF31GM134649 · NIGMS · EMORY UNIVERSITY · PI STERRETT, MARIA CARSON · 2020 to 2022
$138k
The role of rRNA modifications in regulation of translation initiationF31GM157874 · NIGMS · EMORY UNIVERSITY · PI Lauryn Cureton · 2025 to 2026
$99k
NIGMS NIH HHS F31 GM134649NIGMS NIH HHS F31 GM157874NIGMS NIH HHS R01 GM130147NIGMS NIH HHS R35 GM138123NIGMS NIH HHS R35 GM141710NIGMS NIH HHS T32 GM149422
6 · The paper itself

Abstract

The RNA exosome is a multisubunit, 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 different mutations lead to distinct in vivo consequences. To investigate these functional consequences and distinguish whether they are unique to each RNA exosomopathy mutation, we generated a collection of in vivo models by introducing pathogenic missense mutations in orthologous

Indexed as

Exosome Multienzyme Ribonuclease ComplexExosomesMutation, MissenseProtein BiosynthesisSaccharomyces cerevisiaeSaccharomyces cerevisiae ProteinsExoribonucleasesHumansRNA-Binding ProteinsTranscriptomeExoribonucleasesExosome Multienzyme Ribonuclease ComplexRNA-Binding ProteinsSaccharomyces cerevisiae Proteinsbudding yeast disease modelRNA exosomeRNA exosomopathytranslation dysregulation

Identifiers

PMID40246537
PMCPMC12170193

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.