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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Thompson, Kyle; Mai, Nicole; Oláhová, Monika; Scialó, Filippo; Formosa, Luke E; Stroud, David A; Garrett, Madeleine; Lax, Nichola Z; Robertson, Fiona M; Jou, Cristina; Nascimento, Andres; Ortez, Carlos; Jimenez-Mallebrera, Cecilia; Hardy, Steven A; He, Langping; Brown, Garry K; Marttinen, Paula; McFarland, Robert; Sanz, Alberto; Battersby, Brendan J; Bonnen, Penelope E; Ryan, Michael T; Chrzanowska-Lightowlers, Zofia Ma; Lightowlers, Robert N; Taylor, Robert W.
Afiliação
  • Thompson K; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Mai N; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Oláhová M; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Scialó F; Institute for Cell and Molecular Biosciences, Newcastle University Institute for Ageing, Newcastle University, Newcastle upon Tyne, UK.
  • Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia.
  • Stroud DA; Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Vic., Australia.
  • Garrett M; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia.
  • Lax NZ; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Robertson FM; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Jou C; Pathology Department, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain.
  • Nascimento A; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
  • Ortez C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
  • Jimenez-Mallebrera C; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
  • Hardy SA; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • He L; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Brown GK; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Marttinen P; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Sanz A; Institute for Cell and Molecular Biosciences, Newcastle University Institute for Ageing, Newcastle University, Newcastle upon Tyne, UK.
  • Battersby BJ; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.
  • Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia.
  • Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Lightowlers RN; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK robert.taylor@ncl.ac.uk.
EMBO Mol Med ; 10(11)2018 11.
Article em En | MEDLINE | ID: mdl-30201738
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosforilação Oxidativa / Proteínas Nucleares / Encefalomiopatias Mitocondriais / Complexo IV da Cadeia de Transporte de Elétrons / Proteínas Mitocondriais / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Humans / Infant / Male Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosforilação Oxidativa / Proteínas Nucleares / Encefalomiopatias Mitocondriais / Complexo IV da Cadeia de Transporte de Elétrons / Proteínas Mitocondriais / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Humans / Infant / Male Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Reino Unido