Evidence map›Paper›PMID 41417727›Full record

ArticleCell reports2026

The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain.

Lauryn A Higginson, Xingjun Wang, Kevin He, Maggie Torstrick, Minhoo Kim, H R Sagara Wijeratne, Avery M Runnebohm, Bérénice A Benayoun, Adam MacLean, Guillaume F Chanfreau and 1 more

Abstract read
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In one paragraph

Article in Cell reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Lauryn A HigginsonMolecular and Computational Biology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.
Xingjun WangMolecular and Computational Biology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.
Kevin HeDepartment of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Maggie TorstrickMolecular and Computational Biology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.
Minhoo KimLeonard David School of Gerontology, University of Southern California, Los Angeles, CA 90089, USA.
H R Sagara WijeratneIndiana University School of Medicine, Department of Biochemistry and Molecular Biology, Center for Computational Biology and Bioinformatics, Indianapolis, IN 46202, USA.
Avery M RunnebohmIndiana University School of Medicine, Department of Biochemistry and Molecular Biology, Center for Computational Biology and Bioinformatics, Indianapolis, IN 46202, USA.
Bérénice A BenayounLeonard David School of Gerontology, University of Southern California, Los Angeles, CA 90089, USA; Department of Cancer Biology, University of Southern California Keck School of Medicine, Los Angeles, CA 90089, USA.
Adam MacLeanDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
Guillaume F ChanfreauDepartment of Chemistry and Biochemistry and the Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Derrick J MortonMolecular and Computational Biology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA; Leonard David School of Gerontology, University of Southern California, Los Angeles, CA 90089, USA. Electronic address: mortond@usc.edu.

Funding

The Control of Gene Expression by Eukaryotic RibonucleasesR35GM130370 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Guillaume F Chanfreau · 2019 to 2026
$3.3M
Investigating RNA dysregulation in Neurological Disease through study of Pontocerebellar Hypoplasia Type 1bR01NS131620 · NINDS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Derrick Morton · 2023 to 2026
$1.8M
NIGMS NIH HHS R35 GM130370NINDS NIH HHS R01 NS131620
6 · The paper itself

Abstract

Intracellular ribonucleases (RNases) are essential for maintaining accurate RNA levels. Inherited mutations in genes encoding ubiquitous RNases are associated with human diseases, primarily affecting the nervous system. Recessive mutations in genes encoding the evolutionarily conserved RNA exosome, an RNase complex, cause syndromic neurodevelopmental disorders, such as pontocerebellar hypoplasia type 1b (PCH1b), characterized by progressive neurodegeneration. Here, we establish a CRISPR-Cas9-engineered Drosophila model of PCH1b to investigate the cell-type-specific post-transcriptional regulatory functions of the RNA exosome complex in vivo. Pathogenic variants in Rrp40, a subunit of the complex, disrupt RNA exosome activity, leading to widespread transcriptomic dysregulation in brain-enriched cell populations, including defective rRNA processing. These molecular defects coincide with progressive neurodegeneration and behavioral impairments that track with allele severity. Our findings provide a cell-type-resolved view of RNA exosome function in a fully developed animal brain and underscore the critical role of RNA surveillance in safeguarding transcriptome homeostasis and neuronal integrity.

Indexed as

BrainExosomesOlivopontocerebellar AtrophiesRNAAnimalsCell DeathCytoskeletal ProteinsDisease Models, AnimalDrosophilaExosome Multienzyme Ribonuclease ComplexFemaleHomeostasisHumansLearningLocomotionMushroom Bodiesactivity regulated cytoskeletal-associated proteinCytoskeletal ProteinsEXOSC3 protein, humanExosome Multienzyme Ribonuclease ComplexNerve Tissue ProteinsRNARNA-Binding ProteinsRNA PrecursorsArc1CP: molecular biologyCP: neuroscienceEXOSC3neuronal transcriptome homeostasisPCH1bpontocerebellar hypoplasia type 1bRNA exosomeRNA processing/degradationRrp40

Identifiers

PMID41417727
PMCPMC12952294

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Registered trials

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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.