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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen, Jos C; Timal, Sharita; van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothée; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; van den Boogert, Marjolein A W; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; van den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G; Rodenburg, Richard J; Drenth, Joost P H; Huynen, Martijn A; Wevers, Ron A; Morava, Eva; Foulquier, François; Veltman, Joris A; Lefeber, Dirk J.
Afiliação
  • Jansen JC; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Timal S; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • van Scherpenzeel M; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens 11526, Greece.
  • Vicogne D; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, Federation of Research Structural & Functional Biochemistry of Biomolecular Assemblies (FRABio), University of Lille, 59655 Villeneuve d'Ascq, France.
  • Ashikov A; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens 11526, Greece.
  • Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Huijben K; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Steenbergen G; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • van den Boogert MA; Department of Vascular Medicine, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
  • Porta F; Department of Pediatrics, Azienda Ospedaliera Città della Salute e della Scienza, University of Torino, 10126 Torino, Italy.
  • Calvo PL; Department of Pediatrics, Azienda Ospedaliera Città della Salute e della Scienza, University of Torino, 10126 Torino, Italy.
  • Mavrikou M; 1(st) Department of Pediatrics, P. & A. Kyriakou Children's Hospital, Athens 11527, Greece.
  • Cenacchi G; Department of Biomedical and Neuromotor Sciences, Alma Mater Studiorum-University of Bologna, 40138 Bologna, Italy.
  • van den Bogaart G; Department of Tumor Immunology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Salomon J; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Holleboom AG; Department of Vascular Medicine, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
  • Rodenburg RJ; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Drenth JP; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Huynen MA; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Wevers RA; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Morava E; Department of Human Genetics, University of Leuven, 3000 Leuven, Belgium; Hayward Genetics Center, Department of Pediatrics, Tulane University Medical School, New Orleans, LA 70112, USA.
  • Foulquier F; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, Federation of Research Structural & Functional Biochemistry of Biomolecular Assemblies (FRABio), University of Lille, 59655 Villeneuve d'Ascq, France.
  • Veltman JA; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, 6229 HX Maastricht, the Netherlands.
  • Lefeber DJ; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Am J Hum Genet ; 98(2): 322-30, 2016 Feb 04.
Article em En | MEDLINE | ID: mdl-26833330
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colesterol / Fosfatase Alcalina / Complexo de Golgi / Transaminases / Homeostase / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colesterol / Fosfatase Alcalina / Complexo de Golgi / Transaminases / Homeostase / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article