{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1363670320742498176.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1126/science.1154584"}},{"identifier":{"@type":"URI","@value":"https://www.science.org/doi/pdf/10.1126/science.1154584"}}],"dc:title":[{"@value":"TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>\n                    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervous system is uncertain, and a mechanistic role in neurodegeneration remains speculative. We identified neighboring mutations in a highly conserved region of\n                    <jats:italic>TARDBP</jats:italic>\n                    in sporadic and familial ALS cases.\n                    <jats:italic>TARDBPM337V</jats:italic>\n                    segregated with disease within one kindred and a genome-wide scan confirmed that linkage was restricted to chromosome 1p36, which contains the\n                    <jats:italic>TARDBP</jats:italic>\n                    locus. Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS.\n                  </jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1383670320742498048","@type":"Researcher","foaf:name":[{"@value":"Jemeen Sreedharan"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498187","@type":"Researcher","foaf:name":[{"@value":"Ian P. Blair"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498184","@type":"Researcher","foaf:name":[{"@value":"Vineeta B. Tripathi"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498185","@type":"Researcher","foaf:name":[{"@value":"Xun Hu"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498180","@type":"Researcher","foaf:name":[{"@value":"Caroline Vance"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498179","@type":"Researcher","foaf:name":[{"@value":"Boris Rogelj"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498189","@type":"Researcher","foaf:name":[{"@value":"Steven Ackerley"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498178","@type":"Researcher","foaf:name":[{"@value":"Jennifer C. Durnall"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498192","@type":"Researcher","foaf:name":[{"@value":"Kelly L. Williams"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498183","@type":"Researcher","foaf:name":[{"@value":"Emanuele Buratti"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498176","@type":"Researcher","foaf:name":[{"@value":"Francisco Baralle"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498188","@type":"Researcher","foaf:name":[{"@value":"Jacqueline de Belleroche"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498181","@type":"Researcher","foaf:name":[{"@value":"J. Douglas Mitchell"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498186","@type":"Researcher","foaf:name":[{"@value":"P. Nigel Leigh"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498182","@type":"Researcher","foaf:name":[{"@value":"Ammar Al-Chalabi"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498191","@type":"Researcher","foaf:name":[{"@value":"Christopher C. Miller"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498177","@type":"Researcher","foaf:name":[{"@value":"Garth Nicholson"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1383670320742498190","@type":"Researcher","foaf:name":[{"@value":"Christopher E. Shaw"}],"jpcoar:affiliationName":[{"@value":"Department of Clinical Neuroscience, King's College London, Medical Research Council (MRC) Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Department of Neuroscience, King's College London, MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK."},{"@value":"Northcott Neuroscience Laboratory, Australian and New Zealand Army Corps (ANZAC) Research Institute, Concord, NSW, 2137, Australia."},{"@value":"Faculty of Medicine, University of Sydney, Sydney, NSW, 2139, Australia."},{"@value":"International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy."}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00368075"},{"@type":"EISSN","@value":"10959203"},{"@type":"PISSN","@value":"http://id.crossref.org/issn/00368075"}],"prism:publicationName":[{"@value":"Science"}],"dc:publisher":[{"@value":"American Association for the Advancement of Science (AAAS)"}],"prism:publicationDate":"2008-03-21","prism:volume":"319","prism:number":"5870","prism:startingPage":"1668","prism:endingPage":"1672"},"reviewed":"false","url":[{"@id":"https://www.science.org/doi/pdf/10.1126/science.1154584"}],"createdAt":"2008-02-28","modifiedAt":"2024-01-10","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050001335818881792","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"CUL2-mediated clearance of misfolded TDP-43 is paradoxically affected by VHL in oligodendrocytes in ALS."}]},{"@id":"https://cir.nii.ac.jp/crid/1050012733492984576","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"ja","@value":"Molecular Dissection of TDP-43 as a Leading Cause of 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