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Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha, Nuno; Bulger, David A; Frontini, Andrea; Titheradge, Hannah; Gribsholt, Sigrid Bjerge; Knox, Rachel; Page, Matthew; Harris, Julie; Payne, Felicity; Adams, Claire; Sleigh, Alison; Crawford, John; Gjesing, Anette Prior; Bork-Jensen, Jette; Pedersen, Oluf; Barroso, Inês; Hansen, Torben; Cox, Helen; Reilly, Mary; Rossor, Alex; Brown, Rebecca J; Taylor, Simeon I; McHale, Duncan; Armstrong, Martin; Oral, Elif A; Saudek, Vladimir; O'Rahilly, Stephen; Maher, Eamonn R; Richelsen, Bjørn; Savage, David B; Semple, Robert K.
Afiliação
  • Rocha N; The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
  • Bulger DA; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Frontini A; The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
  • Titheradge H; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Gribsholt SB; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, United States.
  • Knox R; Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy.
  • Page M; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.
  • Harris J; West Midlands Medical Genetics Department, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom.
  • Payne F; Department of Endocrinology and Internal Medicine and Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark.
  • Adams C; The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
  • Sleigh A; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Crawford J; New Medicines, UCB Pharma, Slough, United Kingdom.
  • Gjesing AP; The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
  • Bork-Jensen J; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Pedersen O; Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Barroso I; The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
  • Hansen T; The National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, United Kingdom.
  • Cox H; Wolfson Brain Imaging Centre, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Reilly M; National Institute for Health Research/Wellcome Trust Clinical Research Facility, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Rossor A; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.
  • Brown RJ; The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Taylor SI; The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • McHale D; The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Armstrong M; Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
  • Oral EA; The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Saudek V; West Midlands Medical Genetics Department, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom.
  • O'Rahilly S; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, United Kingdom.
  • Maher ER; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, United Kingdom.
  • Richelsen B; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, United States.
  • Savage DB; University of Maryland School of Medicine, Baltimore, United States.
  • Semple RK; New Medicines, UCB Pharma, Slough, United Kingdom.
Elife ; 62017 04 19.
Article em En | MEDLINE | ID: mdl-28414270
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tecido Adiposo / Leptina / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Hiperplasia / Mitocôndrias / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tecido Adiposo / Leptina / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Hiperplasia / Mitocôndrias / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article