Evidence map›Paper›PMID 42309671›Full record

ArticleRNA (New York, N.Y.)2026

A mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes.

Qingyu Shi, Chloe Lauder, Jolie M Miller, Yong-Dong Wang, Noha Elsakrmy, Sofija Volkanoska, Brian D Freibaum, Joanne Wuu, Michael Benatar, Hui Peng and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in RNA (New York, N.Y.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Qingyu ShiDepartment of Chemistry, University of Toronto, Toronto, Ontario M5S 3H6, Canada.ORCID http://orcid.org/0009-0007-2593-6867
Chloe LauderDepartment of Chemistry, University of Toronto, Toronto, Ontario M5S 3H6, Canada.
Jolie M MillerDepartment of Chemistry, University of Toronto, Toronto, Ontario M5S 3H6, Canada.ORCID http://orcid.org/0009-0005-2496-3981
Yong-Dong WangDepartment of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-3678, USA.ORCID http://orcid.org/0000-0001-8751-9216
Noha ElsakrmyDepartment of Chemistry, University of Toronto, Toronto, Ontario M5S 3H6, Canada.ORCID http://orcid.org/0000-0003-3450-5253
Sofija VolkanoskaDepartment of Chemistry, University of Toronto, Toronto, Ontario M5S 3H6, Canada.
Brian D FreibaumDepartment of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-3678, USA.ORCID http://orcid.org/0000-0001-5713-2088
Joanne WuuDepartment of Neurology and ALS Center, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.
Michael BenatarDepartment of Neurology and ALS Center, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.
Hui PengDepartment of Chemistry, University of Toronto, Toronto, Ontario M5S 3H6, Canada.
Hong Joo KimDepartment of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-3678, USA.ORCID http://orcid.org/0000-0002-9157-1612
J Paul TaylorDepartment of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-3678, USA.ORCID http://orcid.org/0000-0002-5794-0349
Haissi CuiDepartment of Chemistry, University of Toronto, Toronto, Ontario M5S 3H6, Canada haissi.cui@utoronto.ca.ORCID http://orcid.org/0000-0003-3358-8958

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multisystem proteinopathy (MSP) is a pleiotropic degenerative disorder which affects the nervous system, muscles, and bones. The identification of risk factors and their molecular contribution to MSP expands our understanding of disease mechanisms. Here, we describe a family with dominantly inherited MSP, in which a mutation in the serine/arginine repetitive matrix protein 2 gene (

Indexed as

MutationNerve Tissue ProteinsNuclear ProteinsRNA-Binding ProteinsSynapsesHumansRNA SplicingNerve Tissue ProteinsNuclear ProteinsRNA-Binding ProteinsSRRM2 protein, humandegenerative disordersgene expression regulationmultisystem proteinopathynuclear speckleRNA splicing

Identifiers

PMID42309671
PMCPMC13492126

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.