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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
Affiliation: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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