MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy

• Lore Becker ,

  ¶These authors are joint first authors on this work.

  Affiliations Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Eva Kling ,

  ¶These authors are joint first authors on this work.

  Affiliation German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Evelyn Schiller,

  Affiliations Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Ramona Zeh,

  Affiliations Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Anja Schrewe,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Department of Cardiology, University of Heidelberg, Heidelberg, Germany

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• Sabine M. Hölter,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Ilona Mossbrugger,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Julia Calzada-Wack,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Valentina Strecker,

  Affiliation Functional Proteomics, Goethe-University Frankfurt, Frankfurt am Main, Germany

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• Ilka Wittig,

  Affiliations Functional Proteomics, Goethe-University Frankfurt, Frankfurt am Main, Germany, German Network for Mitochondrial Disorders (mitoNET), Munich, Germany

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• Iulia Dumitru,

  Affiliation Institute for Genetics, University of Cologne, Cologne, Germany

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• Tina Wenz,

  Affiliations Institute for Genetics, University of Cologne, Cologne, Germany, German Network for Mitochondrial Disorders (mitoNET), Munich, Germany

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• Andreas Bender,

  Affiliation Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany

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• Michaela Aichler,

  Affiliation Research Unit Analytical Pathology – Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Dirk Janik,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Frauke Neff,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Axel Walch,

  Affiliation Research Unit Analytical Pathology – Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Leticia Quintanilla-Fend,

  Affiliation Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Thomas Floss,

  Affiliation Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Raffi Bekeredjian,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Department of Cardiology, University of Heidelberg, Heidelberg, Germany

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• Valérie Gailus-Durner,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Helmut Fuchs,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany

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• Wolfgang Wurst,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Technical University Munich, Chair of Developmental Genetics, c/o Helmholtz Zentrum München, Neuherberg, Germany, German Center for Neurodegenerative Diseases (DZNE), Munich, Germany, Max-Planck-Institute of Psychiatry, Munich, Germany, German Center for Vertigo and Balance Disorders, Munich, Germany

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• Thomas Meitinger,

  Affiliations Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Deutsches Forschungszentrum für Herz-Kreislauferkrankungen (DZHK), partner site Munich Heart Alliance, Munich, Germany, Institute of Human Genetics, Technical University Munich, Munich, Germany

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• Holger Prokisch,

  Affiliations Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Human Genetics, Technical University Munich, Munich, Germany, German Network for Mitochondrial Disorders (mitoNET), Munich, Germany

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• Martin Hrabě de Angelis,

  Affiliations German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, German Center for Vertigo and Balance Disorders, Munich, Germany, Chair of Experimental Genetics, Center of Life and Food Sciences Weihenstephan, Technical University Munich, Freising-Weihenstephan, Germany, German Center for Diabetes Research (DZD), Neuherberg, Germany

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•  [ ... ],
• Thomas Klopstock

  * E-mail: Thomas.Klopstock@med.uni-muenchen.de

  Affiliations Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany, German Center for Neurodegenerative Diseases (DZNE), Munich, Germany, German Center for Vertigo and Balance Disorders, Munich, Germany, German Network for Mitochondrial Disorders (mitoNET), Munich, Germany

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