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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-Ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja.
Afiliação
  • Bonora E; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
  • Chakrabarty S; Department of Molecular Genetics, Erasmus MC, Rotterdam, 3000 CA, The Netherlands.
  • Kellaris G; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA.
  • Tsutsumi M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, 470-1192, Japan.
  • Bianco F; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
  • Bergamini C; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
  • Ullah F; Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA.
  • Isidori F; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
  • Liparulo I; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
  • Diquigiovanni C; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
  • Masin L; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
  • Rizzardi N; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
  • Cratere MG; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
  • Boschetti E; Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, 20132, Italy.
  • Papa V; Department of Medical and Surgical Sciences, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, 40138, Italy.
  • Maresca A; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40123, Italy.
  • Cenacchi G; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, 40139, Italy.
  • Casadio R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, 40123, Italy.
  • Martelli P; Biocomputing Group, Department of Biological, Geological, Environmental Sciences, University of Bologna, Bologna, 40126, Italy.
  • Matera I; Biocomputing Group, Department of Biological, Geological, Environmental Sciences, University of Bologna, Bologna, 40126, Italy.
  • Ceccherini I; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Fato R; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Raiola G; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, 40126, Italy.
  • Arrigo S; Department of Paediatrics, Pugliese-Ciaccio Hospital, Catanzaro, 88100, Italy.
  • Signa S; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Sementa AR; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Severino M; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Striano P; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Fiorillo C; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Goto T; IRCCS Istituto Giannina Gaslini, Genova, 16128, Italy.
  • Uchino S; Laboratory of Molecular Function of Food, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Uji, 611-0011, Japan.
  • Oyazato Y; Department of Pediatrics, Teikyo University School of Medicine, Tokyo, 173-8605, Japan.
  • Nakamura H; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
  • Mishra SK; Department of Pediatrics, Kakogawa Central City Hospital, Kakogawa, Hyogo, 675-8611, Japan.
  • Yeh YS; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
  • Kato T; Glycoscience Group, National University of Ireland, Galway, H91 CF50, Ireland.
  • Nozu K; Laboratory of Molecular Function of Food, Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Uji, 611-0011, Japan.
  • Tanboon J; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, 470-1192, Japan.
  • Morioka I; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, 650-0017, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
  • Toda T; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, 173-8610, Japan.
  • Goto YI; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
  • Ohtake A; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
  • Kosaki K; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
  • Yamaguchi Y; Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, 350-0495, Japan.
  • Nonaka I; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 160-8582, Japan.
  • Iijima K; Laboratory of Pharmaceutical Physical Chemistry, Tohoku Medical and Pharmaceutical University, Miyagi, 981-8558, Japan.
  • Mimaki M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8502, Japan.
  • Kurahashi H; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, 650-0017, Japan.
  • Raams A; Department of Pediatrics, Teikyo University School of Medicine, Tokyo, 173-8605, Japan.
Brain ; 144(5): 1451-1466, 2021 06 22.
Article em En | MEDLINE | ID: mdl-33855352
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 3_ND Problema de saúde: 3_diarrhea Assunto principal: Encefalomiopatias Mitocondriais / DNA Ligase Dependente de ATP / Proteínas de Ligação a Poli-ADP-Ribose / Gastroenteropatias / Motilidade Gastrointestinal Limite: Animals / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 3_ND Problema de saúde: 3_diarrhea Assunto principal: Encefalomiopatias Mitocondriais / DNA Ligase Dependente de ATP / Proteínas de Ligação a Poli-ADP-Ribose / Gastroenteropatias / Motilidade Gastrointestinal Limite: Animals / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália