Evidence map›Paper›PMID 40790269›Full record

ArticleNature neuroscience2025

Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD.

Suzhou Yang, Denethi Wijegunawardana, Udit Sheth, Austin M Veire, Juliana M S Salgado, Tanina Arab, Manasi Agrawal, Jeffrey Zhou, João D Pereira, Tania F Gendron and 1 more

Abstract read
In one paragraph

Article in Nature neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Exploring the PLD1-tau interaction in Frontotemporal Dementia.bioRxiv : the preprint server for biology · 2026
    Article
  5. Article
  6. Article
  7. Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  8. Article
  9. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Suzhou YangDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
Denethi WijegunawardanaDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
Udit ShethNeurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0003-4360-7892
Austin M VeireNeurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0001-9327-0103
Juliana M S SalgadoDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
Tanina ArabDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
Manasi AgrawalDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
Jeffrey ZhouDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT, USA.
João D PereiraDepartment of Neurology, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA.
Tania F GendronNeurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0002-7335-2627
Junjie U GuoDepartment of Neuroscience, Yale University School of Medicine, New Haven, CT, USA. junjie.guo@yale.edu.ORCID http://orcid.org/0000-0001-8871-0055

Funding

Yale Alzheimer Disease Research CenterP30AG066508 · NIA · YALE UNIVERSITY · PI Jaime Grutzendler · 2020 to 2026
$30.2M
Interdepartmental Neuroscience Program (INP)T32NS041228 · NINDS · YALE UNIVERSITY · PI Charles A Greer, Marina R Picciotto · 2001 to 2026
$12.0M
Molecular and cellular determinants of RNA repeat-associated propertiesDP2GM132930 · NIGMS · YALE UNIVERSITY · PI GUO, JUNJIE · 2018 to 2018
$2.5M
Post-transcriptional mRNA regulation in the mammalian nervous systemR35GM152208 · NIGMS · YALE UNIVERSITY · PI Junjie Guo · 2024 to 2026
$1.5M
High Performance Computing Instrumentation for the Yale Center for Genome AnalysisS10OD030363 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2022 to 2022
$1.2M
NIA NIH HHS P30 AG066508NIGMS NIH HHS DP2 GM132930NIGMS NIH HHS R35 GM152208NIH HHS S10 OD030363NINDS NIH HHS T32 NS041228
6 · The paper itself

Abstract

A nucleotide repeat expansion (NRE) (GGGGCC)

Indexed as

Amyotrophic Lateral SclerosisC9orf72 ProteinDNA Repeat ExpansionExonsFrontotemporal DementiaAlternative SplicingFibroblastsHumansNeuronsRNA SplicingSerine-Arginine Splicing FactorsC9orf72 ProteinC9orf72 protein, humanSerine-Arginine Splicing FactorsSRSF1 protein, human

Identifiers

PMID40790269
PMCPMC12720984

What OpenQuestion holds

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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.