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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen, Nicole J; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J H; Coban Akdemir, Zeynep H; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V; Jhangiani, Shalini N; Fatih, Jawid M; Rosenfeld, Jill A; Posey, Jennifer E; Gibbs, Richard A; Karaca, Ender; Massey, Sean; Ranasinghe, Thisara G; Sleiman, Patrick; Troedson, Chris; Lupski, James R; Sacher, Michael; Segev, Nava; Hakonarson, Hakon; Christodoulou, John.
Afiliação
  • Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
  • Guo Y; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Al-Deri N; Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP), Philadelphia, USA.
  • Lipatova Z; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Stanga D; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.
  • Zhao S; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Murtazina R; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.
  • Gyurkovska V; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.
  • Pehlivan D; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL, USA.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Gezdirici A; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Antony J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Collins F; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, 34303, Turkey.
  • Willis MJH; TY Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, Australia.
  • Coban Akdemir ZH; Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.
  • Liu P; Medical Genomics Department, Royal Prince Alfred Hospital, Sydney, Australia.
  • Punetha J; Department of Pediatrics, Naval Medical Center San Diego, San Diego, California, USA.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Rosenfeld JA; Department of Radiology, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Posey JE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Massey S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Ranasinghe TG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
  • Sleiman P; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Troedson C; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Lupski JR; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
  • Sacher M; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.
  • Segev N; Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP), Philadelphia, USA.
  • Hakonarson H; TY Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, Australia.
  • Christodoulou J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Brain ; 143(1): 112-130, 2020 01 01.
Article em En | MEDLINE | ID: mdl-31794024
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autofagia / Anormalidades Craniofaciais / Proteínas de Transporte Vesicular / Fibroblastos / Transtornos do Neurodesenvolvimento / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autofagia / Anormalidades Craniofaciais / Proteínas de Transporte Vesicular / Fibroblastos / Transtornos do Neurodesenvolvimento / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article