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ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Desai, Radha; Frazier, Ann E; Durigon, Romina; Patel, Harshil; Jones, Aleck W; Dalla Rosa, Ilaria; Lake, Nicole J; Compton, Alison G; Mountford, Hayley S; Tucker, Elena J; Mitchell, Alice L R; Jackson, Deborah; Sesay, Abdul; Di Re, Miriam; van den Heuvel, Lambert P; Burke, Derek; Francis, David; Lunke, Sebastian; McGillivray, George; Mandelstam, Simone; Mochel, Fanny; Keren, Boris; Jardel, Claude; Turner, Anne M; Ian Andrews, P; Smeitink, Jan; Spelbrink, Johannes N; Heales, Simon J; Kohda, Masakazu; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi; Lombès, Anne; Holt, Ian J; Thorburn, David R; Spinazzola, Antonella.
Affiliation
  • Desai R; MRC Laboratory, Mill Hill, London NW71AA, UK.
  • Frazier AE; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.
  • Durigon R; Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK.
  • Patel H; Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
  • Jones AW; Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK.
  • Dalla Rosa I; Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK.
  • Lake NJ; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.
  • Compton AG; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.
  • Mountford HS; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.
  • Tucker EJ; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.
  • Mitchell ALR; Department of Clinical Neurosciences, Institute of Neurology, Royal Free Campus, University College London, NW3 2PF, UK.
  • Jackson D; Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
  • Sesay A; Bioinformatics and Biostatistics, Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
  • Di Re M; Mitochondrial Biology Unit, Hills Road, Cambridge, CB2 0XY, UK.
  • van den Heuvel LP; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Burke D; Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, UK and Laboratory Medicine, Great Ormond Street Hospital, London, UK.
  • Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne VIC 3052, Australia.
  • Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne VIC 3052, Australia.
  • McGillivray G; Department of Pathology, University of Melbourne, Melbourne 3052, Australia.
  • Mandelstam S; MRC Laboratory, Mill Hill, London NW71AA, UK.
  • Mochel F; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne VIC 3052, Australia.
  • Keren B; Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.
  • Jardel C; The Florey Institute of Neuroscience and Mental Health Melbourne, Australia.
  • Turner AM; Departments of Radiology and Paediatrics, University of Melbourne, Melbourne, Australia.
  • Ian Andrews P; AP-HP, Department of Genetics, GHU Pitié-Salpêtrière, Paris, F-75651 France.
  • Smeitink J; Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France.
  • Spelbrink JN; Inserm U975; CNRS UMR 7225, ICM; F-75013, Paris, France.
  • Heales SJ; AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France.
  • Kohda M; AP-HP, Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, GHU Pitié-Salpêtrière, Paris, F-75651 France.
  • Ohtake A; Inserm U1016; CNRS UMR 8104; Université Paris-Descartes-Paris 5; Institut Cochin, 75014 Paris, France.
  • Murayama K; Department of Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Okazaki Y; School of Women's and Children's Health, University of New South Wales, Kensington, NSW, Australia.
  • Lombès A; School of Women's and Children's Health, University of New South Wales, Kensington, NSW, Australia.
  • Holt IJ; Department of Paediatric Neurology, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Thorburn DR; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Spinazzola A; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Brain ; 140(6): 1595-1610, 2017 Jun 01.
Article in En | MEDLINE | ID: mdl-28549128
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Cerebellum / Adenosine Triphosphatases / Mitochondrial Diseases / Mitochondrial Proteins / Membrane Proteins / Nervous System Malformations Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Journal: Brain Year: 2017 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom
Fulltext
Add to My VHL
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Cerebellum / Adenosine Triphosphatases / Mitochondrial Diseases / Mitochondrial Proteins / Membrane Proteins / Nervous System Malformations Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Journal: Brain Year: 2017 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom