Evidence map›Paper›PMID 36689813›Full record

ArticleBiochemical and biophysical research communications2023

MATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS.

Marissa Dominick, Nicole Houchins, Vinisha Venugopal, Aamir R Zuberi, Cathleen M Lutz, Bessie Meechooveet, Kendall Van Keuren-Jensen, Robert Bowser, David X Medina

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biochemical and biophysical research communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.8field-weighted citation impact, top 27% of its field
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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. 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

9 authors at 3 institutions in 1 country.

Marissa DominickDepartment of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, 85013, USA.
Nicole HouchinsDepartment of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, 85013, USA.
Vinisha VenugopalDepartment of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, 85013, USA.
Aamir R ZuberiRare and Orphan Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Cathleen M LutzRare and Orphan Disease Translational Center, The Jackson Laboratory, Bar Harbor, ME, USA.
Bessie MeechooveetNeurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
Kendall Van Keuren-JensenNeurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
Robert BowserDepartment of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, 85013, USA.
David X MedinaDepartment of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, 85013, USA. Electronic address: david.medina2@barrowneuro.org.
Barrow Neurological Institute · USJackson Laboratory · USTranslational Genomics Research Institute · US

Funding

Novel knock-in mouse models of ALS and myopathy-linked Matrin 3 mutationsR21NS116385 · NINDS · ST. JOSEPH'S HOSPITAL AND MEDICAL CENTER · PI BOWSER, ROBERT P, MEDINA, DAVID · 2020 to 2020
$435k
NINDS NIH HHS R21 NS116385
6 · The paper itself

Abstract

Matrin 3 is a nuclear matrix protein that has many roles in RNA processing including splicing and transport of mRNA. Many missense mutations in the Matrin 3 gene (MATR3) have been linked to familial forms of amyotrophic lateral sclerosis (ALS) and distal myopathy. However, the exact role of MATR3 mutations in ALS and myopathy pathogenesis is not understood. To demonstrate a role of MATR3 mutations in vivo, we generated a novel CRISPR/Cas9 mediated knock-in mouse model harboring the MATR3 P154S mutation expressed under the control of the endogenous promoter. The P154S variant of the MATR3 gene has been linked to familial forms of ALS. Heterozygous and homozygous MATR3 P154S knock-in mice did not develop progressive motor deficits compared to wild-type mice. In addition, ALS-like pathology did not develop in nervous or muscle tissue in either heterozygous or homozygous mice. Our results suggest that the MATR3 P154S variant is not sufficient to produce ALS-like pathology in vivo.

Indexed as

Amyotrophic Lateral SclerosisNuclear Matrix-Associated ProteinsAnimalsMiceMusclesMuscular DiseasesMutationMutation, MissenseRNA-Binding Proteinsmatrin-3 protein, mouseNuclear Matrix-Associated ProteinsRNA-Binding ProteinsALSMATR3 P154S mutationMatrin 3Mouse modelNeuropathology

Identifiers

PMID36689813
PMCPMC10046992
OpenAlexW4316036346

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.