{"@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/1362825894284403712.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1126/science.271.5254.1423"}},{"identifier":{"@type":"URI","@value":"https://www.science.org/doi/pdf/10.1126/science.271.5254.1423"}},{"identifier":{"@type":"NAID","@value":"80008864681"}}],"dc:title":[{"@value":"Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>\n            Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene,\n            <jats:italic>X25</jats:italic>\n            , was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as\n            <jats:italic>Caenorhabditis elegans</jats:italic>\n            and yeast. A few FRDA patients were found to have point mutations in\n            <jats:italic>X25</jats:italic>\n            , but the majority were homozygous for an unstable GAA trinucleotide expansion in the first\n            <jats:italic>X25</jats:italic>\n            intron.\n          </jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1382825894284403717","@type":"Researcher","foaf:name":[{"@value":"Victoria Campuzano"}],"jpcoar:affiliationName":[{"@value":"V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403848","@type":"Researcher","foaf:name":[{"@value":"Laura Montermini"}],"jpcoar:affiliationName":[{"@value":"L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403851","@type":"Researcher","foaf:name":[{"@value":"Maria Dolores Moltò"}],"jpcoar:affiliationName":[{"@value":"L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403847","@type":"Researcher","foaf:name":[{"@value":"Luigi Pianese"}],"jpcoar:affiliationName":[{"@value":"L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403843","@type":"Researcher","foaf:name":[{"@value":"Mireille Cossée"}],"jpcoar:affiliationName":[{"@value":"V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403713","@type":"Researcher","foaf:name":[{"@value":"Francesca Cavalcanti"}],"jpcoar:affiliationName":[{"@value":"F. Cavalcanti, Istituto Mediterraneo di Neuroscienze “Sanatrix,” 86077 Pozzilli (Isernia), Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403852","@type":"Researcher","foaf:name":[{"@value":"Eugenia Monros"}],"jpcoar:affiliationName":[{"@value":"E. Monros and F. Palau, Unidad de Genetica, Hospital Universitari La Fe, Avenida Campanar 21, 46006 Valencia, Spain."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403718","@type":"Researcher","foaf:name":[{"@value":"François Rodius"}],"jpcoar:affiliationName":[{"@value":"V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403846","@type":"Researcher","foaf:name":[{"@value":"Franck Duclos"}],"jpcoar:affiliationName":[{"@value":"V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403722","@type":"Researcher","foaf:name":[{"@value":"Antonella Monticelli"}],"jpcoar:affiliationName":[{"@value":"L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403845","@type":"Researcher","foaf:name":[{"@value":"Federico Zara"}],"jpcoar:affiliationName":[{"@value":"L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403849","@type":"Researcher","foaf:name":[{"@value":"Joaquin Cañizares"}],"jpcoar:affiliationName":[{"@value":"J. Cañizares and R. De Frutos, Department de Genetica, University of Valencia, C/Dr. Moliner 50, 46100 Burjassot (Valencia), Spain."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403714","@type":"Researcher","foaf:name":[{"@value":"Hana Koutnikova"}],"jpcoar:affiliationName":[{"@value":"V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403720","@type":"Researcher","foaf:name":[{"@value":"Sanjay I. Bidichandani"}],"jpcoar:affiliationName":[{"@value":"L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403841","@type":"Researcher","foaf:name":[{"@value":"Cinzia Gellera"}],"jpcoar:affiliationName":[{"@value":"C. Gellera and S. Di Donato, Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403844","@type":"Researcher","foaf:name":[{"@value":"Alexis Brice"}],"jpcoar:affiliationName":[{"@value":"A. Brice, Hôpital de la Salpetriere, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403721","@type":"Researcher","foaf:name":[{"@value":"Paul Trouillas"}],"jpcoar:affiliationName":[{"@value":"P. Trouillas, Hôpital Neurologique, Pier Wertheimer, 69003 Lyon, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403715","@type":"Researcher","foaf:name":[{"@value":"Giuseppe De Michele"}],"jpcoar:affiliationName":[{"@value":"G. De Michele and A. Filla, Dipartimento di Patologia Sistematica, Divisione di Neurologia II, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403719","@type":"Researcher","foaf:name":[{"@value":"Alessandro Filla"}],"jpcoar:affiliationName":[{"@value":"G. De Michele and A. Filla, Dipartimento di Patologia Sistematica, Divisione di Neurologia II, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403712","@type":"Researcher","foaf:name":[{"@value":"Rosa De Frutos"}],"jpcoar:affiliationName":[{"@value":"J. Cañizares and R. De Frutos, Department de Genetica, University of Valencia, C/Dr. Moliner 50, 46100 Burjassot (Valencia), Spain."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403840","@type":"Researcher","foaf:name":[{"@value":"Francisco Palau"}],"jpcoar:affiliationName":[{"@value":"E. Monros and F. Palau, Unidad de Genetica, Hospital Universitari La Fe, Avenida Campanar 21, 46006 Valencia, Spain."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403850","@type":"Researcher","foaf:name":[{"@value":"Pragna I. Patel"}],"jpcoar:affiliationName":[{"@value":"L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403716","@type":"Researcher","foaf:name":[{"@value":"Stefano Di Donato"}],"jpcoar:affiliationName":[{"@value":"C. Gellera and S. Di Donato, Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403853","@type":"Researcher","foaf:name":[{"@value":"Jean-Louis Mandel"}],"jpcoar:affiliationName":[{"@value":"V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403724","@type":"Researcher","foaf:name":[{"@value":"Sergio Cocozza"}],"jpcoar:affiliationName":[{"@value":"L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403842","@type":"Researcher","foaf:name":[{"@value":"Michel Koenig"}],"jpcoar:affiliationName":[{"@value":"V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France."}]},{"@id":"https://cir.nii.ac.jp/crid/1382825894284403723","@type":"Researcher","foaf:name":[{"@value":"Massimo Pandolfo"}],"jpcoar:affiliationName":[{"@value":"M. Pandolfo, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA, and Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy."}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00368075"},{"@type":"EISSN","@value":"10959203"},{"@type":"PISSN","@value":"http://id.crossref.org/issn/00368075"},{"@type":"PISSN","@value":"https://id.crossref.org/issn/00368075"}],"prism:publicationName":[{"@value":"Science"}],"dc:publisher":[{"@value":"American Association for the Advancement of Science (AAAS)"}],"prism:publicationDate":"1996-03-08","prism:volume":"271","prism:number":"5254","prism:startingPage":"1423","prism:endingPage":"1427"},"reviewed":"false","url":[{"@id":"https://www.science.org/doi/pdf/10.1126/science.271.5254.1423"}],"createdAt":"2006-10-27","modifiedAt":"2024-01-12","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050001335813532288","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Alteration of epigenetic program to recover memory and 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families."},{"@value":"日本人家族における口唇・口蓋裂候補遺伝子の解析"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001277364190592","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001288037272960","@type":"Article","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Current molecular insight to reveal the dynamics of CAG repeating units in spinocerebellar ataxia"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282679216579968","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy","isCitedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Unique Cerebellar-Cerebral Form of Autosomal Recessive Ataxia"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282679842809728","@type":"Article","resourceType":"学術雑誌論文(journal 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