New Results
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
View ORCID ProfileElianne P. Bulthuis, View ORCID ProfileMerel J.W. Adjobo-Hermans, View ORCID ProfileBastiaan de Potter, Saskia Hoogstraten, Lisanne H.T. Wezendonk, View ORCID ProfileOmar A.Z. Tutakhel, Liesbeth T. Wintjes, View ORCID ProfileBert van den Heuvel, View ORCID ProfilePeter H.G.M. Willems, View ORCID ProfileErik-Jan Kamsteeg, View ORCID ProfileM. Estela Rubio Gozalbo, View ORCID ProfileSuzanne C.E.H. Sallevelt, Suzanne M. Koudijs, View ORCID ProfileJoost Nicolai, Charlotte I. de Bie, Jessica E. Hoogendijk, View ORCID ProfileWerner J.H. Koopman, View ORCID ProfileRichard J. Rodenburg
doi: https://doi.org/10.1101/2022.10.31.514480
Elianne P. Bulthuis
1Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Merel J.W. Adjobo-Hermans
1Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Bastiaan de Potter
1Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Saskia Hoogstraten
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
Lisanne H.T. Wezendonk
1Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Omar A.Z. Tutakhel
3Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Liesbeth T. Wintjes
3Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Bert van den Heuvel
3Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Peter H.G.M. Willems
1Department of Biochemistry (286), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
Erik-Jan Kamsteeg
4Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands
M. Estela Rubio Gozalbo
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
Suzanne C.E.H. Sallevelt
6Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands
Suzanne M. Koudijs
7Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands
Joost Nicolai
7Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands
Charlotte I. de Bie
8Department of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands
Jessica E. Hoogendijk
9Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CG Utrecht, The Netherlands
Werner J.H. Koopman
2Human and Animal Physiology, Wageningen University & Research, 6700 AH Wageningen, 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
Richard J. Rodenburg
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
Posted October 31, 2022.
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter, Saskia Hoogstraten, Lisanne H.T. Wezendonk, Omar A.Z. Tutakhel, Liesbeth T. Wintjes, Bert van den Heuvel, Peter H.G.M. Willems, Erik-Jan Kamsteeg, M. Estela Rubio Gozalbo, Suzanne C.E.H. Sallevelt, Suzanne M. Koudijs, Joost Nicolai, Charlotte I. de Bie, Jessica E. Hoogendijk, Werner J.H. Koopman, Richard J. Rodenburg
bioRxiv 2022.10.31.514480; doi: https://doi.org/10.1101/2022.10.31.514480
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter, Saskia Hoogstraten, Lisanne H.T. Wezendonk, Omar A.Z. Tutakhel, Liesbeth T. Wintjes, Bert van den Heuvel, Peter H.G.M. Willems, Erik-Jan Kamsteeg, M. Estela Rubio Gozalbo, Suzanne C.E.H. Sallevelt, Suzanne M. Koudijs, Joost Nicolai, Charlotte I. de Bie, Jessica E. Hoogendijk, Werner J.H. Koopman, Richard J. Rodenburg
bioRxiv 2022.10.31.514480; doi: https://doi.org/10.1101/2022.10.31.514480
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