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Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann, Marie Anne-Catherine; Grossmann, Dajana; Schimpf-Linzenbold, Simone; Dayan, Dana; Stingl, Katarina; Ben-Menachem, Reut; Pines, Ophry; Massart, François; Delcambre, Sylvie; Ghelfi, Jenny; Bohler, Jill; Strom, Tim; Kessel, Amit; Azem, Abdussalam; Schöls, Ludger; Grünewald, Anne; Wissinger, Bernd; Krüger, Rejko.
Afiliação
  • Neumann MA; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Grossmann D; Faculty of Medicine, RWTH Aachen University, Aachen, Germany.
  • Schimpf-Linzenbold S; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. dajana.grossmann@med.uni-rostock.de.
  • Dayan D; CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Stingl K; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tübingen, Germany.
  • Ben-Menachem R; School of Neurobiology, Biochemistry and Biophysics, George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
  • Pines O; Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.
  • Massart F; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Delcambre S; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
  • Ghelfi J; NUS-HUJ-CREATE Program and the Department of Microbiology, School of Medicine, National University of Singapore, Singapore, Singapore.
  • Bohler J; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Strom T; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Kessel A; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Azem A; Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Schöls L; Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.
  • Grünewald A; School of Neurobiology, Biochemistry and Biophysics, George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
  • Wissinger B; School of Neurobiology, Biochemistry and Biophysics, George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
  • Krüger R; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Sci Rep ; 10(1): 16736, 2020 10 07.
Article em En | MEDLINE | ID: mdl-33028849
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervo Óptico / Aconitato Hidratase / Atrofia Óptica / Deleção de Sequência / Haploinsuficiência / Fibroblastos / Mitocôndrias Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Luxemburgo País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervo Óptico / Aconitato Hidratase / Atrofia Óptica / Deleção de Sequência / Haploinsuficiência / Fibroblastos / Mitocôndrias Tipo de estudo: Etiology_studies Limite: Female / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Luxemburgo País de publicação: Reino Unido