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History
- October 31, 2022.
Copyright
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
Author Information
- Elianne P. Bulthuis1,%,
- Merel J.W. Adjobo-Hermans1,%,
- Bastiaan de Potter1,
- Saskia Hoogstraten1,2,
- Lisanne H.T. Wezendonk1,
- Omar A.Z. Tutakhel3,
- Liesbeth T. Wintjes3,
- Bert van den Heuvel3,
- Peter H.G.M. Willems1,
- Erik-Jan Kamsteeg4,
- M. Estela Rubio Gozalbo5,6,
- Suzanne C.E.H. Sallevelt6,
- Suzanne M. Koudijs7,
- Joost Nicolai7,
- Charlotte I. de Bie8,
- Jessica E. Hoogendijk9,
- Werner J.H. Koopman2,10,$ and
- Richard J. Rodenburg10,$
- 1Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
- 2Human and Animal Physiology, Wageningen University & Research, 6700 AH Wageningen, The Netherlands
- 3Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
- 4Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
- 5Department of Pediatrics, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands
- 6Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands
- 7Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands
- 8Department of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands
- 9Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CG Utrecht, The Netherlands
- 10Department of Pediatrics, Amalia Children’s Hospital, Radboud Center for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands
- ↵$Shared corresponding authors:
Dr. W.J.H. Koopman, Department of Pediatrics, Amalia Children’s Hospital, Radboud Institute for Mitochondrial Medicine (RCMM), Radboud Center for Molecular Life Sciences (RIMLS), Radboud University Medical Centre (Radboudumc), P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands, Tel: +31-24-3614589, Fax: +31-24-3616413, E-mail: Werner.Koopman{at}radboudumc.nl. Dr. R.J. Rodenburg, Department of Pediatrics, Translational Metabolic Laboratory (774), Amalia Children’s Hospital, Radboud Institute for Mitochondrial Medicine (RCMM), Radboud Center for Molecular Life Sciences (RIMLS), Radboud University Medical Center (Radboudumc), P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands, Tel: +31-24-3693484, Fax: +31-24-3668754 E-mail: Richard.Rodenburg{at}radboudumc.nl
Author contributions: clinical diagnosis, care and initiation of functional studies (MERG, SCEHS, SMK, JN, CIdB, JEH), whole exome sequencing (E-JK), Western blotting (BdP, EPB, LHTW, LTW), BN-PAGE analysis and generation of complemented cell lines (OAZT, LTW), calcium measurements (BdP, SH, EPB, MJWAH), immunofluorescence microscopy (BdP, EPB, MJWAH), data analysis (EPB, MJWAH, BdP, SH, WJHK), manuscript writing (EPB, MJWAH, BvdH, WJHK, RJR), overall supervision of the research (MJWAH, PHGMW, WJHK, RJR).