About the Authors

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

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

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

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

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

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

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

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

Valentina Strecker

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

Ilka Wittig

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

Iulia Dumitru

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

Tina Wenz

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

Andreas Bender

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

Michaela Aichler

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

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

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

Axel Walch

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

Leticia Quintanilla-Fend

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

Thomas Floss

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

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

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

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

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

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

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

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

Thomas Klopstock

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

Competing Interests

T. Klopstock has been a principal investigator or investigator on industry-sponsored trials funded by Santhera Pharmaceuticals Ltd (idebenone in LHON, idebenone in Friedreich ataxia) and by H. Lundbeck A/S (carbamylated erythropoietin in Friedreich ataxia). He has received research support from government entities (German Research Foundation; German Federal Ministry of Education and Research; European Commission 7th Framework Programme) and from commercial entities (Santhera Pharmaceuticals Ltd; Actelion Pharmaceuticals Ltd; H. Lundbeck A/S). He has been serving on scientific advisory boards for commercial entities (Santhera Pharmaceuticals Ltd; Actelion Pharmaceuticals Ltd) and for non-profit entities (Center for Rare Diseases Bonn, Germany; Hoffnungsbaum e.V., Germany). He has received speaker honoraria and travel costs from commercial entities (Dr. Willmar Schwabe GmbH & Co. KG; Eisai Co., Ltd.; Santhera Pharmaceuticals Ltd; Actelion Pharmaceuticals Ltd; Boehringer Ingelheim Pharma GmbH & Co. KG, GlaxoSmithKline GmbH & Co.KG). He has been doing consultancies for Gerson Lehrman Group, USA, and FinTech Global Capital, Japan. He has been serving as a Section Editor for BMC Medical Genetics from 2011. For competing interests of Thomas Klopstock we declare that this does not alter the authors’ adherence to PLOS ONE policies on sharing data and materials. All other authors report no disclosures.

Author Contributions

Conceived and designed the experiments: LB TK. Performed the experiments: EK ES RZ AS HP IM JCW VS IW ID MA. Analyzed the data: LB EK ES AS SMH IW TW AB DJ. Contributed reagents/materials/analysis tools: FN LQF TF AW RB VGD HF WW TM HP MHA. Wrote the paper: LB TK.