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Open Access
Peer-reviewed
Research Article
Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression
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Elena J. Tucker ,
Contributed equally to this work with: Elena J. Tucker, Bas F. J. Wanschers, Radek Szklarczyk, Hayley S. Mountford
Affiliations Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
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Bas F. J. Wanschers ,
Contributed equally to this work with: Elena J. Tucker, Bas F. J. Wanschers, Radek Szklarczyk, Hayley S. Mountford
Affiliations Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
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Radek Szklarczyk ,
Contributed equally to this work with: Elena J. Tucker, Bas F. J. Wanschers, Radek Szklarczyk, Hayley S. Mountford
Current address: Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Affiliation Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
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Hayley S. Mountford ,
Contributed equally to this work with: Elena J. Tucker, Bas F. J. Wanschers, Radek Szklarczyk, Hayley S. Mountford
Affiliations Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
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Xiaonan W. Wijeyeratne,
Affiliation Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, Victoria, Australia
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Mariël A. M. van den Brand,
Affiliation Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
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Anne M. Leenders,
Affiliation Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
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Richard J. Rodenburg,
Affiliation Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
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Boris Reljić,
Affiliation Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, Victoria, Australia
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Alison G. Compton,
Affiliations Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
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Ann E. Frazier,
Affiliations Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
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Damien L. Bruno,
Affiliations Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia
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John Christodoulou,
Affiliations Genetic Metabolic Disorders Research Unit, Children's Hospital at Westmead, Westmead, New South Wales, Australia, Disciplines of Paediatrics & Child Health and Genetic Medicine, University of Sydney, Sydney, New South Wales, Australia
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Hitoshi Endo,
Affiliation Department of Biochemistry, Jichi Medical University, Tochigi, Japan
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Michael T. Ryan,
Affiliations Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, Victoria, Australia, ARC Centre of Excellence for Coherent X-ray Science, La Trobe University, Melbourne, Australia
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Leo G. Nijtmans,
Affiliation Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
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Martijn A. Huynen ,
* E-mail: M.Huynen@cmbi.ru.nl (MAH); david.thorburn@mcri.edu.au (DRT)
Affiliation Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
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David R. Thorburn
* E-mail: M.Huynen@cmbi.ru.nl (MAH); david.thorburn@mcri.edu.au (DRT)
Affiliations Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia
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Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression
- Elena J. Tucker,
- Bas F. J. Wanschers,
- Radek Szklarczyk,
- Hayley S. Mountford,
- Xiaonan W. Wijeyeratne,
- Mariël A. M. van den Brand,
- Anne M. Leenders,
- Richard J. Rodenburg,
- Boris Reljić,
- Alison G. Compton
- Published: December 26, 2013
- https://doi.org/10.1371/journal.pgen.1004034