ArticleNature2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
Open access · hybridAbstract read
In one paragraph
Article in Nature, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 378 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
378citing papers in PubMed, 1 pooled it
62.5field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
378 citing papers in PubMed, 1 synthesis or guideline pooled it, 541 citations in OpenAlex.
- What can we learn on ALS pathophysiology from iPSC-derived motor neurons harbouring TARBDP mutations: a systematic review.Translational neurodegeneration · 2026Pooled it
- Investigational eIF2B activator DNL343 modulates the integrated stress response in preclinical models of TDP-43 pathology and individuals with ALS in a randomized clinical trial.Nature communications · 2025Trial
- Lateral sclerosis in amyotrophic lateral sclerosis is an upper motor neuron distal axonopathy ("dying back"): a clinical-neuropathological study.Acta neuropathologica · 2026Article
- TBK1 eliminates aggregation-prone monomeric TDP-43 through an IFNβ-immunoproteasome pathway in ALS models.EMBO reports · 2026Article
- Mesenchymal stem cell-derived extracellular vesicle treatment of induced pluripotent stem cell-derived motor neurons with different amyotrophic lateral sclerosis genetic backgrounds.Neural regeneration research · 2026Article
- Advancements in differentiation of induced pluripotent stem cells into specialized neuronal subtypes.Neural regeneration research · 2026Article
- Insertion or deletion variants in TAF15 exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohort.European journal of human genetics : EJHG · 2026Article
- Integrative synaptosome multi-omics reveals disrupted synapse organization and localized cryptic transcripts in C9ORF72-frontotemporal dementia.Acta neuropathologica · 2026Article
- TDP-43 dysfunction induces cryptic circular RNAs in ALS/FTD.bioRxiv : the preprint server for biology · 2026Article
- A new era of genome-wide association studies in the field of Alzheimer's disease and overlapping co-pathologies: lessons learned from a neuropathology-centered approach.Acta neuropathologica · 2026Review
- The Role of cGAS-STING-Driven PANoptosis in Neurodegenerative Diseases and Therapeutic Prospects.Cells · 2026Review
- Clonal CD8 T cells link peripheral and intrathecal immunity in ALS4 progression: a multiomics reference for ALS.Research square · 2026Article
- Article
- Article
- Review
- A mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes.RNA (New York, N.Y.) · 2026Article
- The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease.Alzheimer's research & therapy · 2026Article
- Protease-Mediated TAR DNA-Binding Protein 43 (TDP-43) Pathogenesis: From Molecular Mechanisms to Therapeutic Opportunities.ACS pharmacology & translational science · 2026Review
- TDP-43 controls RNA structure through high affinity lattice interactions.Nature communications · 2026Article
- Are Signal Peptides Hidden Regulators of Neurodegenerative Disease?Biomedicines · 2026Review
318 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
35 authors at 11 institutions in 2 countries.
X Rosa Ma *Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-8297-4279
Mercedes Prudencio *Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0002-4894-4858
Yuka Koike *Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0002-5067-8579
Sarat C VatsavayaiDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Garam KimDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-5907-1127
Fred HarbinskiMaze Therapeutics, South San Francisco, CA, USA.
Adam BrinerDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-4760-5037
Caitlin M RodriguezDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Caiwei GuoDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Tetsuya AkiyamaDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-8076-1242
H Broder SchmidtDepartment of Biochemistry, Stanford University School of Medicine, Stanford, CA, USA.
Beryl B CummingsMaze Therapeutics, South San Francisco, CA, USA.
David W WyattMaze Therapeutics, South San Francisco, CA, USA.
Katherine KuryloMaze Therapeutics, South San Francisco, CA, USA.
Georgiana MillerMaze Therapeutics, South San Francisco, CA, USA.
Shila MekhoubadMaze Therapeutics, South San Francisco, CA, USA.
Nathan SalleeMaze Therapeutics, South San Francisco, CA, USA.
Gemechu MekonnenProgram in Cell, Molecular, Developmental Biology, and Biophysics, Johns Hopkins University, Baltimore, MD, USA.
Laura GanserDepartment of Biophysics, Johns Hopkins University, Baltimore, MD, USA.
Jack D RubienDepartment of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-1203-0445
Karen Jansen-WestDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Casey N CookDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Sarah PicklesDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Björn OskarssonDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0002-1725-9866
Neill R Graff-RadfordDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Bradley F BoeveDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-4153-8187
David S KnopmanDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-6544-066X
Ronald C PetersenDepartment of Neurology, Mayo Clinic, Rochester, MN, USA.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.ORCID http://orcid.org/0000-0001-7189-7917
James ShorterDepartment of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sua MyongProgram in Cell, Molecular, Developmental Biology, and Biophysics, Johns Hopkins University, Baltimore, MD, USA.
Eric M GreenMaze Therapeutics, South San Francisco, CA, USA.ORCID http://orcid.org/0000-0001-7874-9482
William W SeeleyDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Leonard PetrucelliDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. petrucelli.leonard@mayo.edu.
Aaron D GitlerDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA. agitler@stanford.edu.ORCID http://orcid.org/0000-0001-8603-1526
Maze (United States) · USJacksonville College · USStanford University · USJohns Hopkins University · USMayo Clinic in Arizona · USUniversity of California, San Francisco · USUniversity of Pennsylvania · USWinnMed · USMayo Clinic in Florida · USStanford Medicine · USThe University of Queensland · AU
Funding
Technology and Remote Assessment CoreU19AG063911 · NIA · MAYO CLINIC ROCHESTER · PI John Kornak · 2019 to 2026
$120.9MEarly Onset AD Consortium - the LEAD Study (LEADS)U01AG057195 · NIA · INDIANA UNIVERSITY INDIANAPOLIS · PI APOSTOLOVA, LIANA G, CARRILLO, MARIA C · 2018 to 2023
$70.3MTDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2MSUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6MResearch Education ComponentP30AG062422 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Gil Dan Rabinovici · 2019 to 2026
$36.9MResearch Education ComponentP30AG062677 · NIA · MAYO CLINIC ROCHESTER · PI NILUFER ERTEKIN-TANER · 2019 to 2026
$33.5MINSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2MCELLULAR AND MOLECULAR BIOLOGYT32GM007231 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VAN DOREN, MARK B · 1985 to 2020
$18.4MProject 3: Neuropathology of the multi-proteinopathy of c9FTD/ALS.P01NS084974 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2014 to 2024
$17.6MExpanding insights into FTD disease mechanismsR35NS097273 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2017 to 2024
$10.6MInnovating Yeast and Human Genetics Approaches to Define Mechanisms of Neurodegenerative DiseaseR35NS097263 · NINDS · STANFORD UNIVERSITY · PI GITLER, AARON D. · 2017 to 2024
$8.6MHuman Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI GITLER, AARON D. · 2021 to 2025
$8.2MNHGRI NIH HHS T32 HG000044NIA NIH HHS P01 AG019724NIA NIH HHS P30 AG062422NIA NIH HHS P30 AG062677NIA NIH HHS R01 AG063780NIA NIH HHS RF1 AG064690NIA NIH HHS RF1 AG071326NIA NIH HHS T32 AG047126NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG057195NIA NIH HHS U19 AG063911NIGMS NIH HHS F32 GM139268NIGMS NIH HHS T32 GM007231NINDS NIH HHS F32 NS116208NINDS NIH HHS P01 NS084974NINDS NIH HHS R01 NS104437NINDS NIH HHS R35 NS097263NINDS NIH HHS R35 NS097273NINDS NIH HHS RF1 NS113636NINDS NIH HHS RF1 NS120992NINDS NIH HHS U54 NS123743
Abstract
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-43 from the nucleus of neurons in the brain and spinal cord
Indexed as
Amyotrophic Lateral SclerosisFrontotemporal DementiaDNA-Binding ProteinsExonsGenome-Wide Association StudyHumansMotor NeuronsNerve Tissue ProteinsDNA-Binding ProteinsNerve Tissue ProteinsTARDBP protein, humanUNC13B protein, human
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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.