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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection
Authors:Shen-Ying Zhang  Nathaniel E Clark  Catherine A Freije  Elodie Pauwels  Allison J Taggart  Satoshi Okada  Hanna Mandel  Paula Garcia  Michael J Ciancanelli  Anat Biran  Fabien G Lafaille  Miyuki Tsumura  Aurélie Cobat  Jingchuan Luo  Stefano Volpi  Bastian Zimmer  Sonoko Sakata  Alexandra Dinis  Jean-Laurent Casanova
Institution:1. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA;2. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France;3. Paris Descartes University, Imagine Institute, Paris 75015, France;4. Department of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA;5. Program in Immunogenomics, The Rockefeller University, New York, NY 10065, USA;6. Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA;7. Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan;8. Metabolic Unit, Ruth Children’s Hospital, Rambam Health Care Campus, Haifa 31096, Israel;9. Rappaport Faculty of Medicine, Haifa 31096, Israel;10. Child Developmental Center, Pediatric Hospital, Hospital and University Center of Coimbra, Coimbra 3000-602, Portugal;11. Department of Molecular Biology & Genetics, JHU School of Medicine, Baltimore, MD 21205, USA;12. Institute for Systems Genetics, NYU Langone Health, New York 10016, NY, USA;13. Pediatric and Rheumatology Clinic, Center for Autoinflammatory Diseases and Immunodeficiencies, Istituto Giannina Gaslini and University of Genoa, Genoa 16100, Italy;14. The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY 10065, USA;15. Pediatric Intensive Care Unit, Pediatric Hospital, Hospital and University Center of Coimbra, Coimbra 3000-075, Portugal;16. Department of Technology Development, Kazusa DNA Research Institute, Chiba 292-0818, Japan;17. Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan;18. Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892-1456, USA;19. Department of Cellular and Integrative Physiology and The Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, TX 78229, USA;20. South Texas Veterans Health Care System, Department of Veterans Affairs, TX 78229, USA;21. Department of Chemistry, McGill University, Montréal, QC H3A0B8, Canada;22. Department of Obstetrics and Gynecology, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan;23. Immuno-Allergy Department, Hospital and University of Coimbra, Coimbra 3000-075, Portugal;24. Immunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia;25. Department of Neonatology, Hiroshima Prefectural Hospital, Hiroshima 734-8115, Japan;26. Department of Microbiology-Immunology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA;27. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA;28. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA;29. Pediatric Hospital of Coimbra, Coimbra 3000-075, Portugal;30. Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA;31. Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA;32. X-ray Crystallography Core Laboratory, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA;33. Immunology Unit, Ruth Children’s Hospital, Haifa 31096, Israel;34. Howard Hughes Medical Institute, New York, NY 10065, USA;35. Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France
Abstract:
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  • Keywords:DBR1  RNA lariat debranching  viral encephalitis  brainstem
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