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Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Van Bergen, Nicole J; Ahmed, Syed Mukhtar; Collins, Felicity; Cowley, Mark; Vetro, Annalisa; Dale, Russell C; Hock, Daniella H; de Caestecker, Christian; Menezes, Minal; Massey, Sean; Ho, Gladys; Pisano, Tiziana; Glover, Seana; Gusman, Jovanka; Stroud, David A; Dinger, Marcel; Guerrini, Renzo; Macara, Ian G; Christodoulou, John.
Affiliation
  • Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Ahmed SM; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Collins F; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN.
  • Cowley M; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Vetro A; Medical Genomics Department, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
  • Dale RC; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Hock DH; St Vincent's Clinical School, University of New South Wales Sydney, Sydney, New South Wales, Australia.
  • de Caestecker C; Children's Cancer Institute, Kensington, New South Wales, Australia.
  • Menezes M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Massey S; Department of Paediatric Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Ho G; Kids Neuroscience Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Pisano T; Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.
  • Glover S; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN.
  • Gusman J; Kids Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Stroud DA; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Dinger M; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.
  • Macara IG; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
J Exp Med ; 217(10)2020 10 05.
Article in En | MEDLINE | ID: mdl-32639540
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Vesicular Transport Proteins Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: J Exp Med Year: 2020 Type: Article Affiliation country: Australia
Fulltext
Print
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PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain / Vesicular Transport Proteins Limits: Female / Humans / Infant / Male / Newborn Language: En Journal: J Exp Med Year: 2020 Type: Article Affiliation country: Australia