Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Autor: Ashikov A; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Abu Bakar N; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Wen XY; Zebrafish Centre for Advanced Drug Discovery & Keenan Research Centre for Biomedical Science, Li Ka Shing Knowledge Institute, St Michael's Hospital, Toronto, ON, Canada.; Department of Medicine, Physiology & Institute of Medical Science, Faculty of Medicine, University of Toronto, ON, Canada., Niemeijer M; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Rodrigues Pinto Osorio G; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Brand-Arzamendi K; Zebrafish Centre for Advanced Drug Discovery & Keenan Research Centre for Biomedical Science, Li Ka Shing Knowledge Institute, St Michael's Hospital, Toronto, ON, Canada.; Department of Medicine, Physiology & Institute of Medical Science, Faculty of Medicine, University of Toronto, ON, Canada., Hasadsri L; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Hansikova H; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Raymond K; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Vicogne D; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d'Ascq, France., Ondruskova N; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Timal S; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Beumers R; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Biot C; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d'Ascq, France., Smeets R; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Kersten M; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Huijben K; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Linders PTA; Department of Tumor Immunology, 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., van Hijum SAFT; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; NIZO, 6710 BA Ede, The Netherlands., Rodenburg R; Radboud Center for Mitochondrial Disorders, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., van den Heuvel LP; Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., van Spronsen F; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB Groningen, The Netherlands., Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Foulquier F; CNRS-UMR 8576, Structural and Functional Glycobiology Unit, FRABIO, University of Lille, 59655 Villeneuve d'Ascq, France., van Scherpenzeel M; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Mirjam W; Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands., Han B; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Helen M; Centre for Inherited Metabolic Disease, Evelina Children's Hospital, Guys and St Thomas NHS Foundation Trust, London SE1 7EH, UK., Helen M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Peter VH; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands., Jiddeke VK; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Diego M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, Rome, Italy., Lars M; Department of Medical Biochemistry, Oslo University Hospital, and Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Katja BH; Department of Child Neurology, University Hospital Stavanger, Stavanger, Norway., Jozef H; Department of Paediatrics, Tawam Hospital, Al-Ain, UAE., Majid A; King Abdullah International Medical Research Centre, King Saud bin Abdul Aziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdul Aziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia., Kevin C; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Disciplines of Genetic Medicine & Child and Adolescent Health, The University of Sydney, NSW 2145, Australia., Johann TWN; Department of Child Health, University Hospital of Wales, Cardiff, UK.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2018 Sep 01; Vol. 27 (17), pp. 3029-3045.