ArticleNature communications2023
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2023. 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 38 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
8.2field-weighted citation impact, top 2% of its field
What it found
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Exploring dysregulated miRNAs in ALS: implications for disease pathogenesis and early diagnosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- Temporal gating dictates stress-induced transcript export from the nucleus.Genes & development · 2026Article
- Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.Acta neuropathologica · 2026Article
- Accelerating scientific discovery with Co-Scientist.Nature · 2026Article
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- Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.Cellular and molecular life sciences : CMLS · 2026Review
- Temporal gating dictates stress-induced transcript export from the nucleus.bioRxiv : the preprint server for biology · 2026Article
- Condensate protein aggregation in ALS/FTD is regulated by GGGGCC-repeat RNA scaffolds.Nature structural & molecular biology · 2026Article
- Enlarged Perivascular Spaces (EPVS) and the Risk of Amyotrophic Lateral Sclerosis (ALS): Evidence for Overlapping Genetic Signals in White Matter Without Causal Links.Brain sciences · 2026Article
- SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications BeyondInternational journal of molecular sciences · 2025Article
- Review
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Using blood methylomes to predict response to amisulpride in the first-episode psychosis in the OPTiMiSE cohort.Translational psychiatry · 2025Article
- Nuclear mechanics as a determinant of nuclear pore complex plasticity.Nature cell biology · 2025Review
- Visualizing nuclear pore complex plasticity with pan-expansion microscopy.The Journal of cell biology · 2025Article
- FUS Mislocalization Rewires a Cortical Gene Network to Drive Cognitive and Behavioral Impairment in ALS.medRxiv : the preprint server for health sciences · 2025Article
- Lower Circulating Gas6 Levels Are Associated with Bulbar Phenotype and Faster Disease Progression in Amyotrophic Lateral Sclerosis Patients.Molecular neurobiology · 2025Article
- Large-scale transcriptomic analyses of major depressive disorder reveal convergent dysregulation of synaptic pathways in excitatory neurons.Nature communications · 2025Article
- Visualizing nuclear pore complex plasticity with pan-Expansion Microscopy.bioRxiv : the preprint server for biology · 2025Article
- microRNA in ALS: finally ready for prime time?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
39 authors at 11 institutions in 6 countries.
Salim MegatUniversité de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France. salim.megat@inserm.fr.ORCID http://orcid.org/0000-0003-2186-6770
Natalia MoraDepartment of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.ORCID http://orcid.org/0000-0002-2183-7753
Jason SanogoUniversité de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France.
Olga RomanUniversité de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France.
Alberto CataneseInstitute of Anatomy and Cell Biology, Ulm University, Ulm, Germany.ORCID http://orcid.org/0000-0002-8266-4913
Najwa Ouali AlamiClinical Neuroanatomy, Department of Neurology, Ulm University, Ulm, Germany.
Axel FreischmidtGerman Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany.
Xhuljana MingajLaboratory of Translational Research for Neurological Disorders, Imagine Institute, Université de Paris, INSERM UMR 1163, 75015, Paris, France.
Hortense De CalbiacLaboratory of Translational Research for Neurological Disorders, Imagine Institute, Université de Paris, INSERM UMR 1163, 75015, Paris, France.
François MuratetSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.
Sylvie Dirrig-GroschUniversité de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France.
Stéphane DieterleUniversité de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France.
Nick Van BakelDepartment of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.
Kathrin MüllerGerman Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany.
Kirsten SieverdingGerman Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany.
Jochen WeishauptDivision for Neurodegenerative Diseases, Neurology Department, University Medicine Mannheim, Heidelberg University, Mannheim, Germany.
Peter Munch AndersenDepartment of Clinical Science, Neurosciences, Umea University, Umea, Sweden.ORCID http://orcid.org/0000-0003-0094-5429
Markus WeberNeuromuscular Disease Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland.ORCID http://orcid.org/0000-0002-5538-9274
Christoph NeuwirthNeuromuscular Disease Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland.ORCID http://orcid.org/0000-0002-1874-8872
Markus MargelischInstitute for Pathology, Kanstonsspital St. Gallen, St. Gallen, Switzerland.
Andreas SommacalInstitute for Pathology, Kanstonsspital St. Gallen, St. Gallen, Switzerland.
Kristel R Van EijkDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Jan H VeldinkDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0001-5572-9657
Project Mine Als Sequencing Consortium
Géraldine LautretteService de Neurologie, Centre de Référence SLA et autres maladies du neurone moteur, CHU Dupuytren 1, Limoges, France.
Philippe CouratierService de Neurologie, Centre de Référence SLA et autres maladies du neurone moteur, CHU Dupuytren 1, Limoges, France.
Agnès CamuzatSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.
Isabelle Le BerSorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.
Maurizio GrassanoALS Center "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
Adriano ChioALS Center "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
Tobias BoeckersInstitute of Anatomy and Cell Biology, Ulm University, Ulm, Germany.ORCID http://orcid.org/0000-0002-1486-8535
Albert C LudolphGerman Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany.
Francesco RoselliGerman Center for Neurodegenerative Diseases (DZNE) Ulm, Ulm, Germany.
Deniz Yilmazer-HankeClinical Neuroanatomy, Department of Neurology, Ulm University, Ulm, Germany.
Stéphanie Millecamps *Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.ORCID http://orcid.org/0000-0002-0745-6735
Edor Kabashi *Laboratory of Translational Research for Neurological Disorders, Imagine Institute, Université de Paris, INSERM UMR 1163, 75015, Paris, France.
Erik Storkebaum *Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.ORCID http://orcid.org/0000-0002-9519-5642
Chantal Sellier *Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France.
Luc Dupuis *Université de Strasbourg, Inserm, Mécanismes centraux et périphériques de la neurodégénérescence, UMR-S1118, Centre de Recherches en Biomédecine, Strasbourg, France. ldupuis@unistra.fr.ORCID http://orcid.org/0000-0002-0902-5824
Inserm · FRUniversität Ulm · DECentre National de la Recherche Scientifique · FRKantonsspital St. Gallen · CHRadboud University Nijmegen · NLHôpital Dupuytren · FRUniversity of Turin · ITUtrecht University · NLGerman Center for Neurodegenerative Diseases · DEUmeå University · SEUniversity of Mannheim · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50. Independently, rare variants in NUP50 were associated with ALS risk (P = 3.71.10
Indexed as
Amyotrophic Lateral SclerosisFrontotemporal DementiaAnimalsDisease Models, AnimalHumansMutationNeuronsRNA-Binding Protein FUSZebrafishRNA-Binding Protein FUS
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