Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy
Authors
Marie Anne-Catherine Neumann 1 2, Dajana Grossmann 3, Simone Schimpf-Linzenbold 4 5, Dana Dayan 6, Katarina Stingl 7, Reut Ben-Menachem 8, Ophry Pines 8 9, François Massart 1, Sylvie Delcambre 1, Jenny Ghelfi 1, Jill Bohler 1, Tim Strom 10, Amit Kessel 6, Abdussalam Azem 6, Ludger Schöls 11 12, Anne Grünewald 1 13, Bernd Wissinger 5 7, Rejko Krüger 14 15 16
- Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
- Faculty of Medicine, RWTH Aachen University, Aachen, Germany.
- Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. dajana.grossmann@med.uni-rostock.de.
- CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
- Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tübingen, Germany.
- School of Neurobiology, Biochemistry and Biophysics, George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.
- Centre for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.
- Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University, Jerusalem, Israel.
- NUS-HUJ-CREATE Program and the Department of Microbiology, School of Medicine, National University of Singapore, Singapore, Singapore.
- Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.
- Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
- German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
- Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
- Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg. rejko.krueger@uni.lu.
- Transversal Translational Medicine, Luxembourg Institute of Health (LIH), Strassen, Luxembourg. rejko.krueger@uni.lu.
- Parkinson Research Clinic, Centre Hospitalier de Luxembourg (CHL), Luxembourg, Luxembourg. rejko.krueger@uni.lu.