{"@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/1362262945632964352.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1126/science.289.5480.782"}},{"identifier":{"@type":"URI","@value":"https://www.science.org/doi/pdf/10.1126/science.289.5480.782"}},{"identifier":{"@type":"NAID","@value":"80012074130"}}],"dc:title":[{"@value":"Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>\n            Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial DNA (mtDNA) deletions. We have identified two heterozygous missense mutations in the nuclear gene encoding the heart/skeletal muscle isoform of the adenine nucleotide translocator (\n            <jats:italic>ANT1</jats:italic>\n            ) in five families and one sporadic patient. The familial mutation substitutes a proline for a highly conserved alanine at position 114 in the ANT1 protein. The analogous mutation in yeast caused a respiratory defect. These results indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism.\n          </jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1382262945632964359","@type":"Researcher","foaf:name":[{"@value":"Jyrki Kaukonen"}],"jpcoar:affiliationName":[{"@value":"National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964352","@type":"Researcher","foaf:name":[{"@value":"Jukka K. Juselius"}],"jpcoar:affiliationName":[{"@value":"VTT Biotechnology, Espoo, Finland."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964358","@type":"Researcher","foaf:name":[{"@value":"Valeria Tiranti"}],"jpcoar:affiliationName":[{"@value":"Division of Biochemistry and Genetics, Department of Neurological Research, National Neurological Institute “C. Besta,” Milan, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964360","@type":"Researcher","foaf:name":[{"@value":"Aija Kyttälä"}],"jpcoar:affiliationName":[{"@value":"National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964354","@type":"Researcher","foaf:name":[{"@value":"Massimo Zeviani"}],"jpcoar:affiliationName":[{"@value":"Division of Biochemistry and Genetics, Department of Neurological Research, National Neurological Institute “C. Besta,” Milan, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964355","@type":"Researcher","foaf:name":[{"@value":"Giacomo P. Comi"}],"jpcoar:affiliationName":[{"@value":"Centro Dino Ferrari, Istituto di Clinica Neurologica, Università degli Studi di Milano, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, Milan, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964353","@type":"Researcher","foaf:name":[{"@value":"Sirkka Keränen"}],"jpcoar:affiliationName":[{"@value":"VTT Biotechnology, Espoo, Finland."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964357","@type":"Researcher","foaf:name":[{"@value":"Leena Peltonen"}],"jpcoar:affiliationName":[{"@value":"National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland."},{"@value":"Department of Human Genetics, University of California School of Medicine, Los Angeles, CA 10095–7088, USA."}]},{"@id":"https://cir.nii.ac.jp/crid/1382262945632964356","@type":"Researcher","foaf:name":[{"@value":"Anu Suomalainen"}],"jpcoar:affiliationName":[{"@value":"National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland."}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00368075"},{"@type":"EISSN","@value":"10959203"}],"prism:publicationName":[{"@value":"Science"}],"dc:publisher":[{"@value":"American Association for the Advancement of Science (AAAS)"}],"prism:publicationDate":"2000-08-04","prism:volume":"289","prism:number":"5480","prism:startingPage":"782","prism:endingPage":"785"},"reviewed":"false","url":[{"@id":"https://www.science.org/doi/pdf/10.1126/science.289.5480.782"}],"createdAt":"2002-07-27","modifiedAt":"2024-01-13","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360009142530192128","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Attempts to understand the mechanisms of mitochondrial diseases: The reverse genetics of mouse models for mitochondrial 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article)","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@value":"ミトコンドリア機能異常と老年病"},{"@language":"en","@value":"Mitochondrial dysfunctions and age-associated diseases"},{"@language":"ja-Kana","@value":"ロウネン イガク ノ テンボウ ミトコンドリア キノウ イジョウ ト ロウネンビョウ"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001205035204352","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"A case of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis with multiple mitochondrial DNA deletions"},{"@value":"ミトコンドリアDNAに多重欠失をみとめたsensory ataxic neuropathy, dysarthria, and ophthalmoparesisの1例"},{"@language":"ja-Kana","@value":"ショウレイ ホウコク ミトコンドリア DNA ニ タジュウ ケツシツ オ ミトメタ sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ノ 1レイ"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282679847227264","@type":"Article","resourceType":"学術雑誌論文(journal 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