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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker, Elena J; Wanschers, Bas F J; Szklarczyk, Radek; Mountford, Hayley S; Wijeyeratne, Xiaonan W; van den Brand, Mariël A M; Leenders, Anne M; Rodenburg, Richard J; Reljic, Boris; Compton, Alison G; Frazier, Ann E; Bruno, Damien L; Christodoulou, John; Endo, Hitoshi; Ryan, Michael T; Nijtmans, Leo G; Huynen, Martijn A; Thorburn, David R.
Afiliação
  • Tucker EJ; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Wanschers BF; 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.
  • Szklarczyk R; Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Mountford HS; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Wijeyeratne XW; Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, Victoria, Australia.
  • van den Brand MA; Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Leenders AM; Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Rodenburg RJ; Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Reljic B; Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, Victoria, Australia.
  • Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Bruno DL; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Christodoulou J; 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.
  • Endo H; Department of Biochemistry, Jichi Medical University, Tochigi, Japan.
  • Ryan MT; 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.
  • Nijtmans LG; Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Huynen MA; Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Thorburn DR; 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.
PLoS Genet ; 9(12): e1004034, 2013.
Article em En | MEDLINE | ID: mdl-24385928
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo III da Cadeia de Transporte de Elétrons / Doenças Mitocondriais / Citocromos b / Proteínas de Membrana Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Austrália
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Complexo III da Cadeia de Transporte de Elétrons / Doenças Mitocondriais / Citocromos b / Proteínas de Membrana Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Austrália