{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:11:02Z","timestamp":1790745062052,"version":"4.1.0"},"reference-count":82,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T00:00:00Z","timestamp":1702252800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004794","name":"CNRS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Federal Ministry of Education and Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010311","name":"Core","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100010311","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100007874","name":"CLSM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007874","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>TAR DNA binding protein of 43\u2005kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a G376V-TDP-43 missense variant in the C-terminal prion-like domain of the protein in two French families affected by an autosomal dominant myopathy but not fulfilling diagnostic criteria for ALS.<\/jats:p>\n                  <jats:p>Patients from both families presented with progressive weakness and atrophy of distal muscles, starting in their fifth to seventh decade. Muscle biopsies revealed a degenerative myopathy characterized by accumulation of rimmed (autophagic) vacuoles, disruption of sarcomere integrity and severe myofibrillar disorganization. The G376V variant altered a highly conserved amino acid residue and was absent in databases on human genome variation. Variant pathogenicity was supported by in silico analyses and functional studies.<\/jats:p>\n                  <jats:p>The G376V mutant increased the formation of cytoplasmic TDP-43 condensates in cell culture models, promoted assembly into high molecular weight oligomers and aggregates in vitro, and altered morphology of TDP-43 condensates arising from phase separation. Moreover, the variant led to the formation of cytoplasmic TDP-43 condensates in patient-derived myoblasts and induced abnormal mRNA splicing in patient muscle tissue.<\/jats:p>\n                  <jats:p>The identification of individuals with TDP-43-related myopathy, but not ALS, implies that TARDBP missense variants may have more pleiotropic effects than previously anticipated and support a primary role for TDP-43 in skeletal muscle pathophysiology. We propose to include TARDBP screening in the genetic work-up of patients with late-onset distal myopathy. Further research is warranted to examine the precise pathogenic mechanisms of TARDBP variants causing either a neurodegenerative or myopathic phenotype.<\/jats:p>","DOI":"10.1093\/brain\/awad410","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T01:47:54Z","timestamp":1702086474000},"page":"1768-1783","source":"Crossref","is-referenced-by-count":18,"title":["The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis"],"prefix":"10.1093","volume":"147","author":[{"given":"Julia","family":"Zibold","sequence":"first","affiliation":[{"name":"Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich , 80336 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lola E R","family":"Lessard","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"},{"name":"Service d\u2019Electroneuromyographie et de pathologies neuromusculaires, H\u00f4pital Neurologique Pierre Wertheimer, Hospices Civils de Lyon , 69677 Bron , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavien","family":"Picard","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara Gruijs","family":"da Silva","sequence":"additional","affiliation":[{"name":"Johannes Gutenberg University (JGU), Faculty of Biology, Institute of Molecular Physiology , 55128 Mainz , Germany"},{"name":"Graduate School of Systemic Neurosciences (GSN), LMU BioCenter, Department Biology II Neurobiology , 82152 Planegg-Martinsried , Germany"},{"name":"Center for Anatomy, Faculty of Medicine and University Hospital Cologne, University of Cologne , 50931 Cologne , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yelyzaveta","family":"Zadorozhna","sequence":"additional","affiliation":[{"name":"Johannes Gutenberg University (JGU), Faculty of Biology, Institute of Molecular Physiology , 55128 Mainz , Germany"},{"name":"International PhD Programme (IPP) of the Institute of Molecular Biology (IMB) , 55128 Mainz , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Streichenberger","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"},{"name":"D\u00e9partement d\u2019Anatomo-Pathologie, Groupement Hospitalier Est, Hospices Civils de Lyon , 69677 Bron , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0496-2309","authenticated-orcid":false,"given":"Edwige","family":"Belotti","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Osseni","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9a","family":"Emerit","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Errazuriz-Cerda","sequence":"additional","affiliation":[{"name":"Plateforme d\u2019imagerie CIQLE , 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Michel-Calemard","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"},{"name":"Service Biochimie et Biologie Mol\u00e9culaire, Centre de biologie et pathologie Est, Hospices civils de Lyon , 69677 Bron , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Menassa","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"},{"name":"Service Biochimie et Biologie Mol\u00e9culaire, Centre de biologie et pathologie Est, Hospices civils de Lyon , 69677 Bron , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Coudert","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Wiessner","sequence":"additional","affiliation":[{"name":"Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich , 80336 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf","family":"Stucka","sequence":"additional","affiliation":[{"name":"Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich , 80336 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[{"name":"Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich , 80336 Munich , Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE) , Munich Site, 81377 Munich , Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy) , 81377 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Simonetti","sequence":"additional","affiliation":[{"name":"Johannes Gutenberg University (JGU), Faculty of Biology, Institute of Molecular Physiology , 55128 Mainz , Germany"},{"name":"Graduate School of Systemic Neurosciences (GSN), LMU BioCenter, Department Biology II Neurobiology , 82152 Planegg-Martinsried , Germany"},{"name":"German Center for Neurodegenerative Diseases (DZNE) , Munich Site, 81377 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Hutten","sequence":"additional","affiliation":[{"name":"Johannes Gutenberg University (JGU), Faculty of Biology, Institute of Molecular Physiology , 55128 Mainz , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0830-9403","authenticated-orcid":false,"given":"Takashi","family":"Nonaka","sequence":"additional","affiliation":[{"name":"Dementia Research Project, Tokyo Metropolitan Institute of Medical Science , Tokyo 156-8506 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7415-8159","authenticated-orcid":false,"given":"Masato","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Dementia Research Project, Tokyo Metropolitan Institute of Medical Science , Tokyo 156-8506 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich , 81675 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilien","family":"Bernard","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Rockefeller, Institut NeuroMyoG\u00e8ne-PGNM, Universit\u00e9 Claude Bernard Lyon , 69008 Lyon , France"},{"name":"Service d\u2019Electroneuromyographie et de pathologies neuromusculaires, H\u00f4pital Neurologique Pierre Wertheimer, Hospices Civils de Lyon , 69677 Bron , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Ollagnon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Neurog\u00e9n\u00e9tique et M\u00e9decine Pr\u00e9dictive, H\u00f4pital de la Croix-Rousse, Hospices Civils de Lyon , 69004 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andoni","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"Centre de Re\u0301fe\u0301rence Neuromusculaire, H\u00f4pital Marin\u2014APHP , 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