ArticleNature neuroscience2014
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
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In one paragraph
Article in Nature neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 263 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
263citing papers in PubMed, 3 pooled it
32.5field-weighted citation impact, top 1% of its field
What it found
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Who cites it
263 citing papers in PubMed, 3 syntheses or guidelines pooled it, 441 citations in OpenAlex.
- Transcriptional targets of amyotrophic lateral sclerosis/frontotemporal dementia protein TDP-43 - meta-analysis and interactive graphical database.Disease models & mechanisms · 2022Pooled it
- The NGS technology for the identification of genes associated with the ALS. A systematic review.European journal of clinical investigation · 2020Pooled it
- Meta-analysis of Genetic Modifiers Reveals Candidate Dysregulated Pathways in Amyotrophic Lateral Sclerosis.Neuroscience · 2019Pooled it
- Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.Acta neuropathologica · 2026Article
- Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.International journal of molecular sciences · 2026Review
- RNA-Binding Protein TAF15 Suppresses Toxicity in a Yeast Model of FUS Proteinopathy.Journal of fungi (Basel, Switzerland) · 2026Article
- RNArchitects: how hnRNPs shape neuronal landscapes.Brain : a journal of neurology · 2026Review
- The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.Cell reports · 2026Article
- A role for the cholinergic neuron circadian clock in RNA metabolism and mediating neurodegeneration.Life science alliance · 2026Article
- Review
- Neurodegenerative spliceosomopathies.Frontiers in cell and developmental biology · 2026Review
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer's and other neurological disorders.bioRxiv : the preprint server for biology · 2025Article
- Matrin-3 forms spherical and wormlike assemblies that are modulated by RNA binding and ALS/FTD-associated mutations.Molecular cell · 2025Article
- Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS.The Journal of clinical investigation · 2025Article
- ALS-associated RNA-binding proteins promote UNC13A transcription through REST downregulation.The EMBO journal · 2025Article
- Molecular Visualization of Neuronal TDP43 PathologybioRxiv : the preprint server for biology · 2025Article
- Identifying Therapeutic Targets for Amyotrophic Lateral Sclerosis Through Modeling of Multi-Omics Data.International journal of molecular sciences · 2025Article
- RNA-binding proteins in ALS and FTD: from pathogenic mechanisms to therapeutic insights.Molecular neurodegeneration · 2025Review
- Gene therapy breakthroughs in ALS: a beacon of hope for 20% of ALS patients.Translational neurodegeneration · 2025Review
203 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
42 authors at 16 institutions in 7 countries.
Janel O Johnson *Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Erik P Pioro *Department of Neurology, Neurological Institute, Neuromuscular Center, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
Ashley Boehringer *Division of Neurology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA.
Ruth Chia *Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Howard FeitDepartment of Neurology, Henry Ford Hospital, Detroit, MI 48202, USA.
Alan E RentonNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Hannah A PlinerNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Yevgeniya AbramzonNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Giuseppe MarangiNeuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
Brett J WinbornDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
J Raphael GibbsComputational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
Michael A NallsMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
Sarah MorganDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Maryam ShoaiDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
John HardyDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Alan PittmanDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Richard W OrrellDepartment of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK.
Andrea MalaspinaCentre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, North-East London and Essex Regional MND Care Centre, E1 2AT, UK.
Katie C SidleDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
Pietro FrattaDepartment of Neurodegenerative Disease, University College London, Queen Square, London WC1N 3BG, UK.
Matthew B HarmsDepartment of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.
Robert H BalohDepartment of Neurology, Cedars-Sinai Medical Center, 8730 Alden Drive, Los Angeles, CA 90048, USA.
Alan PestronkDepartment of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.
Conrad C WeihlDepartment of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.
Ekaterina RogaevaTanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON, M5S 3H2, Canada.
Lorne ZinmanDivision of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, M4N 3M5, Canada.
Vivian E DroryDepartment of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
Giuseppe BorgheroDepartment of Neurology, Azienda Universitaria-Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
Gabriele MoraALS Center, Salvatore Maugeri Foundation, Milan, Italy.
Andrea Calvo'Rita Levi Montalcini' Department of Neuroscience, University of Turin, 10126 Turin, Italy.
Jeffrey D RothsteinBrain Science Institute and Department of Neurology, Johns Hopkins Hospital, 855 N. Wolfe Street, Baltimore, MD 21205, USA.
ITALSGEN
Carsten DrepperInstitute for Clinical Neurobiology, University of Würzburg, D-97078 Würzburg, Germany.
Michael SendtnerInstitute for Clinical Neurobiology, University of Würzburg, D-97078 Würzburg, Germany.
Andrew B SingletonMolecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
J Paul TaylorDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Mark R CooksonCell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Gabriella Restagno *Molecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna, 10126 Turin, Italy.
Mario Sabatelli *Neurological Institute, Catholic University and I.C.O.M.M. Association for ALS Research, 10100 Rome, Italy.
Robert Bowser *Division of Neurology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA.
Adriano Chiò *'Rita Levi Montalcini' Department of Neuroscience, University of Turin, 10126 Turin, Italy.
Bryan J Traynor *Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
National Institutes of Health · USUniversity College London · GBBarrow Neurological Institute · USCedars-Sinai Medical Center · USCleveland Clinic · USQueen Mary University of London · GBSunnybrook Health Science Centre · CAUniversity of Cagliari · ITUniversity of Würzburg · DEWashington University in St. Louis · USFondazione Salvatore Maugeri · ITJohns Hopkins University · USNational Institute on Aging · USSt. Jude Children's Research Hospital · USUniversità Cattolica del Sacro Cuore · ITUniversity of Toronto · CA
Funding
Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MGenetic analysis in families with neurological diseaseZIAAG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$10.9MGenome wide SNP analysis in Amyotrophic Lateral SclerosisZIAAG000933 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2009 to 2025
$9.8MGene expression in the human brainZIAAG000947 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2009 to 2025
$7.2MGenome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6MALS/FTD mutant C9orf72-induced genetic and nuclear pathology in iPS cell modelsR01NS085207 · NINDS · JOHNS HOPKINS UNIVERSITY · PI ROTHSTEIN, JEFFREY D, SATTLER, RITA · 2013 to 2017
$1.8MPeptide and Protein Biomarkers for Amyotrophic Lateral Sclerosis (ALS)R01NS061867 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI BOWSER, ROBERT P · 2009 to 2013
$1.6MNEXT-GENERATION SEQUENCING APPROACHES FOR NOVEL GENE DISCOVERY IN ALSK08NS075094 · NINDS · WASHINGTON UNIVERSITY · PI HARMS, MATTHEW · 2011 to 2015
$787kPeptide and Protein Biomarkers for Amyotrophic Lateral Sclerosis (ALS)R56NS061867 · NINDS · ST. JOSEPH'S HOSPITAL AND MEDICAL CENTER · PI BOWSER, ROBERT P · 2014 to 2014
$687kAUTOPHAGIC DYSFUNCTION IN IBMPFD ASSOCIATED MUSCLE DISEASEK02AG042095 · NIA · WASHINGTON UNIVERSITY · PI WEIHL, CONRAD C · 2012 to 2016
$671kIntramural NIH HHS Z01 AG000949Intramural NIH HHS ZIA AG000933Medical Research Council G1000287Medical Research Council MC_G1000735NCATS NIH HHS UL1 TR001079NIA NIH HHS K02 AG042095NIA NIH HHS Z01-AG000949-02NINDS NIH HHS K08 NS075094NINDS NIH HHS NS061867NINDS NIH HHS R01 NS061867NINDS NIH HHS R01 NS085207NINDS NIH HHS R56 NS061867Wellcome Trust 089698
Abstract
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
Indexed as
Family HealthAgedAged, 80 and overAmyotrophic Lateral SclerosisComputational BiologyDNA-Binding ProteinsDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedMuscle, SkeletalMutationNeurologic ExaminationDNA-Binding ProteinsMATR3 protein, humanNuclear Matrix-Associated ProteinsRNA-Binding Proteins
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