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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen, Jos C; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; Vicogne, Dorothée; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Pérez-Cerdá, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A W; Holleboom, Adriaan G; Nassogne, Marie-Cécile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P H; Huynen, Martijn A; Veltman, Joris A; Wevers, Ron A; Morava, Eva; Matthijs, Gert; Foulquier, François; Marquardt, Thorsten; Lefeber, Dirk J.
Afiliación
  • 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.
  • Cirak S; Institut für Humangenetik, Uniklinik Köln, 50931 Köln, Germany; Klinik und Poliklinik für Kinder- und Jugendmedizin, Uniklinik Köln, 50937 Köln, Germany; Zentrum für Molekulare Medizin, Uniklinik Köln, 50931 Köln, Germany.
  • 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.
  • 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.
  • Reunert J; Department of Pediatrics, Westfälische Wilhelms-Universität Münster, 48149 Münster, Germany.
  • Rust S; Department of Pediatrics, Westfälische Wilhelms-Universität Münster, 48149 Münster, Germany.
  • Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and Instituto de Investigación Sanitaria (IdiPAZ), 28049 Madrid, S
  • 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.
  • Krawitz P; Institute for Medical Genetics, 13353 Berlin, Germany.
  • Wada Y; Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka 594-1101, Japan.
  • 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.
  • Pérez-Cerdá C; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and Instituto de Investigación Sanitaria (IdiPAZ), 28049 Madrid, S
  • Medrano C; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and Instituto de Investigación Sanitaria (IdiPAZ), 28049 Madrid, S
  • Arnoldy A; Department of Pediatrics, University of Essen, 45122 Essen, Germany.
  • 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.
  • Quelhas D; Biochemical Genetics Unit, Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar do Porto, 4050-466 Porto, Portugal.
  • Diogo L; Metabolic Diseases Unit, Centro de Desenvolvimento da Criança, Hospital Pediátrico, Centro Hospitalar Universitário de Coimbra, 3000-609 Coimbra, Portugal.
  • Rymen D; Department of Pediatrics, University of Leuven, 3000 Leuven, Belgium.
  • Jaeken J; Department of Pediatrics, University of Leuven, 3000 Leuven, Belgium.
  • Guffon N; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, 69677 Bron Cedex, France.
  • Cheillan D; Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, 69677 Bron Cedex, France.
  • van den Heuvel LP; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Nijmegen Center for Mitochondrial Disorders, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, 6525
  • Maeda Y; Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 565-0871, Japan.
  • Kaiser O; Department of Pediatric Neurology, Children's Hospital Essen, 45122 Essen, Germany.
  • Schara U; Department of Pediatric Neurology, Children's Hospital Essen, 45122 Essen, Germany.
  • Gerner P; Department of Pediatric Gastroenterology, Hepatology and Endoscopy, University Hospital, 79110 Freiburg, Germany.
  • van den Boogert MA; Department of Vascular Medicine, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
  • Holleboom AG; Department of Vascular Medicine, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands.
  • Nassogne MC; Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Woluwe-Saint-Lambert, Belgium.
  • Sokal E; Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1200 Woluwe-Saint-Lambert, Belgium.
  • Salomon J; Department of Gastroenterology and Hepatology, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • van den Bogaart G; Department of Tumor Immunology, 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; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • 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.
  • Wevers RA; Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Morava E; Department of Pediatrics, University of Leuven, 3000 Leuven, Belgium; Hayward Genetics Center, Department of Pediatrics, Tulane University Medical School, New Orleans, LA 70112, USA.
  • Matthijs G; Department of Pediatrics, University of Leuven, 3000 Leuven, Belgium.
  • 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.
  • Marquardt T; Department of Pediatrics, Westfälische Wilhelms-Universität Münster, 48149 Münster, Germany.
  • 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): 310-21, 2016 Feb 04.
Article en En | MEDLINE | ID: mdl-26833332
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Aparato de Golgi / Homeostasis / Proteínas del Tejido Nervioso Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Aparato de Golgi / Homeostasis / Proteínas del Tejido Nervioso Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos