Evidence map›Paper›PMID 33082323›Full record

ArticleNature communications2020

Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS.

Ching Serena Kao, Rebekah van Bruggen, Jihye Rachel Kim, Xiao Xiao Lily Chen, Cadia Chan, Jooyun Lee, Woo In Cho, Melody Zhao, Claudia Arndt, Katarina Maksimovic and 4 more

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

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
1.9field-weighted citation impact, top 11% 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

31 citing papers in PubMed, 41 citations in OpenAlex.

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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

14 authors at 3 institutions in 1 country.

Ching Serena KaoGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Rebekah van BruggenGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Jihye Rachel KimGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Xiao Xiao Lily ChenGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-1529-0568
Cadia ChanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-4810-8366
Jooyun LeeGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-6635-0669
Woo In ChoGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-5373-9819
Melody ZhaoGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Claudia ArndtGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Katarina MaksimovicGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Mashiat KhanGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Qiumin TanDepartment of Cell Biology, University of Alberta, Edmonton, AB, Canada.
Michael D WilsonGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-4015-3066
Jeehye ParkGenetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. jeehye.park@sickkids.ca.ORCID 0000-0003-1945-6684
University of Toronto · CAHospital for Sick Children · CAUniversity of Alberta · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A missense mutation, S85C, in the MATR3 gene is a genetic cause for amyotrophic lateral sclerosis (ALS). It is unclear how the S85C mutation affects MATR3 function and contributes to disease. Here, we develop a mouse model that harbors the S85C mutation in the endogenous Matr3 locus using the CRISPR/Cas9 system. MATR3 S85C knock-in mice recapitulate behavioral and neuropathological features of early-stage ALS including motor impairment, muscle atrophy, neuromuscular junction defects, Purkinje cell degeneration and neuroinflammation in the cerebellum and spinal cord. Our neuropathology data reveals a loss of MATR3 S85C protein in the cell bodies of Purkinje cells and motor neurons, suggesting that a decrease in functional MATR3 levels or loss of MATR3 function contributes to neuronal defects. Our findings demonstrate that the MATR3 S85C mouse model mimics aspects of early-stage ALS and would be a promising tool for future basic and preclinical research.

Indexed as

Amyotrophic Lateral SclerosisAnimalsDisease Models, AnimalFemaleGene Knock-In TechniquesHumansLoss of Function MutationMaleMiceMotor NeuronsMutation, MissenseNuclear Matrix-Associated ProteinsPurkinje CellsRNA-Binding Proteinsmatrin-3 protein, mouseNuclear Matrix-Associated ProteinsRNA-Binding Proteins

Identifiers

PMID33082323
PMCPMC7576598
OpenAlexW3094421202

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.