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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio.
Afiliación
  • Del Dotto V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Ullah F; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.
  • Di Meo I; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Magini P; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan.
  • Gusic M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
  • Maresca A; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy.
  • Caporali L; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Palombo F; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Tagliavini F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Baugh EH; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Macao B; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Szilagyi Z; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Peron C; Institute for Genomic Medicine, Columbia University, New York, New York, USA.
  • Gustafson MA; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • Khan K; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
  • La Morgia C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
  • Barboni P; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA.
  • Carbonelli M; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.
  • Valentino ML; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Liguori R; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan.
  • Shashi V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Sullivan J; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Nagaraj S; Department of Ophthalmology, Studio Oculistico d'Azeglio, Bologna, Italy.
  • El-Dairi M; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Iannaccone A; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Cutcutache I; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Bertini E; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Carrozzo R; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
  • Emma F; Division of Medical Genetics and.
  • Diomedi-Camassei F; Division of Medical Genetics and.
  • Zanna C; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
  • Armstrong M; Neuro-Ophthalmology Service and.
  • Page M; Center for Retinal Degenerations and Ophthalmic Genetic Diseases and Visual Function Diagnostic Laboratory, Duke Eye Center, Duke University School of Medicine, Durham, North Carolina, USA.
  • Stong N; Translational Medicine, UCB Pharma, Slough, United Kingdom.
  • Boesch S; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Kopajtich R; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Wortmann S; Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Rome, Italy.
  • Sperl W; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, Rome, Italy.
  • Davis EE; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
  • Copeland WC; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.
  • Seri M; Translational Medicine, UCB Pharma, Slough, United Kingdom.
  • Falkenberg M; Institute for Genomic Medicine, Columbia University, New York, New York, USA.
  • Prokisch H; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
  • Katsanis N; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Tiranti V; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Pippucci T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Carelli V; Institute of Human Genetics, Technische Universität München, Munich, Germany.
J Clin Invest ; 130(1): 108-125, 2020 01 02.
Article en En | MEDLINE | ID: mdl-31550240
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Atrofias Ópticas Hereditarias / Proteínas Mitocondriales / Proteínas de Unión al ADN / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: J Clin Invest Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Atrofias Ópticas Hereditarias / Proteínas Mitocondriales / Proteínas de Unión al ADN / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: J Clin Invest Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos