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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
Authors:Hui Hui Wong  Sze Hwee Seet  Michael Maier  Ayse Gurel  Ricardo Moreno Traspas  Cheryl Lee  Shan Zhang  Beril Talim  Abigail Y.T. Loh  Crystal Y. Chia  Tze Shin Teoh  Danielle Sng  Jarred Rensvold  Sule Unal  Evgenia Shishkova  Ece Cepni  Fatima M. Nathan  Fernanda L. Sirota  Bruno Reversade
Affiliation:3. Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey;4. Cardiovascular and Metabolic Diseases, Duke-NUS Medical School, Singapore 169857, Singapore;5. Pediatric Pathology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey;6. Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA;7. Morgridge Institute for Research, Madison, WI 53715, USA;8. Pediatric Hematology Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey;9. Research Center of Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes, Hacettepe University, Ankara 06230, Turkey;10. National Center for Quantitative Biology of Complex Systems, Madison, WI 53562, USA;11. Department of Biomolecular Chemistry, University of Wisconsin–Madison, Madison, WI 53562, USA;12. Institute of Health Sciences, Koç University, 34010 Istanbul, Turkey;13. Yale-NUS College, 12 College Avenue West, Singapore 138610, Singapore;15. Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara 06110, Turkey;16. Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey;17. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;18. Intergen Genetic Diagnosis Center, Ankara 06680, Turkey;19. Qatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha, Qatar;20. Molecular and Clinical Sciences Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK;21. Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey;22. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK;23. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA;24. Texas Children’s Hospital, Houston, TX 77030, USA;25. Paris University, Imagine Institute, Paris 75015, France;26. Laboratory of Human Genetics of Infectious Disease, Necker Branch, INSERM U1163, Paris, France;27. Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA;28. Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA;29. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA;30. Department of Biological Sciences, National University of Singapore, Singapore 117558, Singapore;31. Department of Chemistry, University of Wisconsin–Madison, Madison, WI 53562, USA;32. Farabi Medical Laboratory, Erbil, Iraq;33. Chief Division Pediatric Neurology, Department of Pediatrics, Rafic Hariri University Hospital, Beirut, Lebanon;34. Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt;35. Corporate Research, The Procter and Gamble Company, Cincinnati, OH 45040, USA;36. Genomic Research, CENTOGENE GmbH, 18055 Rostock, Germany;37. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran 14194, Iran;38. Network of Immunity in Infection, Malignancy and Autoimmunity, Universal Scientific Education and Research Network, Tehran 14197, Iran;39. Department of Pediatric Infectious Diseases, Children’s Medical Center, Tehran University of Medical Sciences, Tehran 14194, Iran;40. Laboratoire d’analyses spécialisé en Génétique, Tunis 1082, Tunisia;41. Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh 14611, Saudi Arabia;42. King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh 11481, Saudi Arabia;43. Department of Pediatrics, Division of Neurology, University of Gaziantep, School of Medicine, Gaziantep 27310, Turkey;44. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;45. Pediatric Immunology-Hematology Unit, Assistance Publique-Hôpitaux de Paris, Necker Hospital for Sick Children, Paris 75015, France;46. Howard Hughes Medical Institute, New York, NY 10065, USA;47. Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, MO 63110, USA;48. Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA;49. Department of Biochemistry, University of Wisconsin–Madison, Madison, WI 53706, USA;50. Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117593, Singapore;51. Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore
Abstract:
Keywords:C2ORF69   mitochondriopathy   inflammation   GBE1   encephalopathy   zebrafish   Elbracht-Işikay syndrome   lipase   glycogen   Mendelian genetics
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