ArticleNature2022
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Erratum issuedOpen 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. An erratum has been issued. Cited by 339 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
339citing papers in PubMed, 2 pooled it
56.3field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
339 citing papers in PubMed, 2 syntheses or guidelines pooled it, 486 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
- The Current Potential Pathogenesis of Amyotrophic Lateral Sclerosis.Molecular neurobiology · 2025Pooled 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
- HyLnc: a hybrid deep learning and feature-based approach for long non-coding RNA prediction.RNA biology · 2026Article
- Therapeutic frontiers in ALS: iPSC-based drug discovery, cell therapy, and gene therapy-Advances through 2026.Regenerative therapy · 2026Review
- Multiple motor proteins regulate TDP-43 anterograde axonal transport.Acta neuropathologica · 2026Article
- 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
- 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
- Neutralization of pathogenic PC-OxPL by AAV-delivered scFv as a therapeutic strategy for amyotrophic lateral sclerosis.Molecular therapy. Advances · 2026Article
- Review
- Using human 3D organoid models to gain mechanistic insight in motor neuron diseases.Nature reviews. Neuroscience · 2026Review
- Prion-like Protein TDP-43: Mechanisms, Diagnosis, and Therapeutic Prospects.Pathogens (Basel, Switzerland) · 2026Review
- 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
- Article
- Intron retention in health and amyotrophic lateral sclerosis.Brain : a journal of neurology · 2026Review
279 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
- Commented on by
- Erratum issued
Authors and funding
32 authors at 20 institutions in 9 countries.
Anna-Leigh Brown *UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Oscar G Wilkins *UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Matthew J Keuss *UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Sarah E Kargbo-Hill *National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-8499-7455
Matteo ZanovelloUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Weaverly Colleen LeeUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Alexander BamptonQueen Square Brain Bank, UCL Queen Square Institute of Neurology, University College London, London, UK.
Flora C Y LeeUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Laura MasinoThe Francis Crick Institute, London, UK.
Yue A QiCenter for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.
Sam Bryce-SmithUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Ariana GattQueen Square Brain Bank, UCL Queen Square Institute of Neurology, University College London, London, UK.
Martina HalleggerUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Delphine FagegaltierCenter for Genomics of Neurodegenerative Disease, New York Genome Center (NYGC), New York, NY, USA.
Hemali PhatnaniCenter for Genomics of Neurodegenerative Disease, New York Genome Center (NYGC), New York, NY, USA.
NYGC ALS Consortium
Jia NewcombeNeuroResource, Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0001-9609-7975
Emil K GustavssonQueen Square Brain Bank, UCL Queen Square Institute of Neurology, University College London, London, UK.
Sahba SeddighiNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Joel F ReyesNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Steven L CoonMolecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.
Daniel RamosNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Giampietro SchiavoUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.ORCID http://orcid.org/0000-0002-4319-8745
Elizabeth M C FisherUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.
Towfique RajNash Family Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-9355-5704
Maria SecrierDepartment of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London, UK.ORCID http://orcid.org/0000-0003-2758-1741
Tammaryn LashleyQueen Square Brain Bank, UCL Queen Square Institute of Neurology, University College London, London, UK.
Jernej UleUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK.ORCID http://orcid.org/0000-0002-2452-4277
Emanuele BurattiMolecular Pathology Lab, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.ORCID http://orcid.org/0000-0002-1356-9074
Jack HumphreyNash Family Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Michael E WardNational Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. wardme@nih.gov.
Pietro FrattaUCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL, London, UK. p.fratta@ucl.ac.uk.ORCID http://orcid.org/0000-0002-8762-8188
National Hospital for Neurology and Neurosurgery · GBThe Francis Crick Institute · GBAllen Institute for Brain Science · USNational Institute of Neurological Disorders and Stroke · USUniversity of California, San Francisco · USHarvard University · USNew York Genome Center · USPennsylvania State University · USUniversity of Pennsylvania · USBarrow Neurological Institute · USBrigham and Women's Hospital · USBroad Institute · USColumbia University · USIcahn School of Medicine at Mount Sinai · USJohns Hopkins University · USMassachusetts General Hospital · USMott MacDonald (United Kingdom) · GBMRC Prion Unit · GBNational Institutes of Health · USTemple University · US
Funding
Mechanisms of inherited neurodegenerative diseasesZIANS003155 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI WARD, MICHAEL · 2016 to 2025
$24.7MMedical Scientist Training ProgramT32GM136577 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI ANDREA L COX · 2020 to 2026
$13.4MHuman Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI GITLER, AARON D. · 2021 to 2025
$8.2MLearning the Regulatory Code of Alzheimer's Disease GenomesU01AG068880 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KNOWLES, DAVID ARTHUR, RAJ, TOWFIQUE · 2020 to 2024
$5.8MThe Role of Alternative Splicing in NeurodegenerationR56AG055824 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI RAJ, TOWFIQUE · 2019 to 2019
$804kMedical Research Council MC_EX_MR/N501931/1Medical Research Council MC_PC_MR/S022708/1Medical Research Council MR/K018523/1Medical Research Council MR/M008606/1Medical Research Council MR/R005184/1Medical Research Council MR/S006508/1Medical Research Council MR/W005190/1Motor Neurone Disease Association FRATTA/JAN15/946-795Motor Neurone Disease Association HALLEGGER/OCT15/959-799Motor Neurone Disease Association MALASPINA/APR13/817-791Motor Neurone Disease Association TURNER/OCT15/972-797NIA NIH HHS R56 AG055824NIA NIH HHS U01 AG068880NIGMS NIH HHS T32 GM136577NINDS NIH HHS U54 NS123743Wellcome Trust 107116/Z/15/ZWellcome Trust FC001002
Abstract
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia
Indexed as
Amyotrophic Lateral SclerosisFrontotemporal DementiaTDP-43 ProteinopathiesAlternative SplicingCodon, NonsenseDNA-Binding ProteinsHumansNerve Tissue ProteinsPolymorphism, Single NucleotideCodon, NonsenseDNA-Binding ProteinsNerve Tissue ProteinsTARDBP protein, humanUNC13B protein, human
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
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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.