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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Zhang, Shen-Ying; Clark, Nathaniel E; Freije, Catherine A; Pauwels, Elodie; Taggart, Allison J; Okada, Satoshi; Mandel, Hanna; Garcia, Paula; Ciancanelli, Michael J; Biran, Anat; Lafaille, Fabien G; Tsumura, Miyuki; Cobat, Aurélie; Luo, Jingchuan; Volpi, Stefano; Zimmer, Bastian; Sakata, Sonoko; Dinis, Alexandra; Ohara, Osamu; Garcia Reino, Eduardo J; Dobbs, Kerry; Hasek, Mary; Holloway, Stephen P; McCammon, Karen; Hussong, Stacy A; DeRosa, Nicholas; Van Skike, Candice E; Katolik, Adam; Lorenzo, Lazaro; Hyodo, Maki; Faria, Emilia; Halwani, Rabih; Fukuhara, Rie; Smith, Gregory A; Galvan, Veronica; Damha, Masad J; Al-Muhsen, Saleh; Itan, Yuval; Boeke, Jef D; Notarangelo, Luigi D; Studer, Lorenz; Kobayashi, Masao; Diogo, Luisa; Fairbrother, William G; Abel, Laurent; Rosenberg, Brad R; Hart, P John; Etzioni, Amos; Casanova, Jean-Laurent.
Afiliación
  • Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, F
  • Clark NE; Department of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
  • Freije CA; Program in Immunogenomics, The Rockefeller University, New York, NY 10065, USA.
  • Pauwels E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  • Taggart AJ; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
  • Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
  • Mandel H; Metabolic Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 31096, Israel; Rappaport Faculty of Medicine, Haifa 31096, Israel.
  • Garcia P; Child Developmental Center, Pediatric Hospital, Hospital and University Center of Coimbra, Coimbra 3000-602, Portugal.
  • Ciancanelli MJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  • Biran A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  • Lafaille FG; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  • Tsumura M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
  • Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France.
  • Luo J; Department of Molecular Biology & Genetics, JHU School of Medicine, Baltimore, MD 21205, USA; Institute for Systems Genetics, NYU Langone Health, New York 10016, NY, USA.
  • Volpi S; Pediatric and Rheumatology Clinic, Center for Autoinflammatory Diseases and Immunodeficiencies, Istituto Giannina Gaslini and University of Genoa, Genoa 16100, Italy.
  • Zimmer B; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY 10065, USA.
  • Sakata S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
  • Dinis A; Pediatric Intensive Care Unit, Pediatric Hospital, Hospital and University Center of Coimbra, Coimbra 3000-075, Portugal.
  • Ohara O; Department of Technology Development, Kazusa DNA Research Institute, Chiba 292-0818, Japan; Laboratory for Integrative Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
  • Garcia Reino EJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  • Dobbs K; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892-1456, USA.
  • Hasek M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
  • Holloway SP; Department of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
  • McCammon K; Department of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
  • Hussong SA; 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; South Texas Veterans Health Care System, Department of Veterans Affairs, TX 78229, USA.
  • DeRosa N; 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.
  • Van Skike CE; 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.
  • Katolik A; Department of Chemistry, McGill University, Montréal, QC H3A0B8, Canada.
  • Lorenzo L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France.
  • Hyodo M; Department of Obstetrics and Gynecology, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
  • Faria E; Immuno-Allergy Department, Hospital and University of Coimbra, Coimbra 3000-075, Portugal.
  • Halwani R; Immunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.
  • Fukuhara R; Department of Neonatology, Hiroshima Prefectural Hospital, Hiroshima 734-8115, Japan.
  • Smith GA; Department of Microbiology-Immunology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
  • Galvan V; 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; South Texas Veterans Health Care System, Department of Veterans Affairs, TX 78229, USA.
  • Damha MJ; Department of Chemistry, McGill University, Montréal, QC H3A0B8, Canada.
  • Al-Muhsen S; Immunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.
  • Itan Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Scien
  • Boeke JD; Department of Molecular Biology & Genetics, JHU School of Medicine, Baltimore, MD 21205, USA; Institute for Systems Genetics, NYU Langone Health, New York 10016, NY, USA.
  • Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892-1456, USA.
  • Studer L; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY 10065, USA.
  • Kobayashi M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
  • Diogo L; Pediatric Hospital of Coimbra, Coimbra 3000-075, Portugal.
  • Fairbrother WG; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA.
  • Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, F
  • Rosenberg BR; Program in Immunogenomics, The Rockefeller University, New York, NY 10065, USA; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Hart PJ; Department of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA; South Texas Veterans Health Care System, Department of Veterans Affairs, TX 78229, USA; X-ray Crystallography Core Laboratory, University of Texas Health Science C
  • Etzioni A; Rappaport Faculty of Medicine, Haifa 31096, Israel; Immunology Unit, Ruth Children's Hospital, Haifa 31096, Israel.
  • Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, F
Cell ; 172(5): 952-965.e18, 2018 02 22.
Article en En | MEDLINE | ID: mdl-29474921

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Tronco Encefálico / ARN / Encefalopatías Metabólicas Innatas Límite: Animals / Female / Humans / Male Idioma: En Revista: Cell Año: 2018 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Tronco Encefálico / ARN / Encefalopatías Metabólicas Innatas Límite: Animals / Female / Humans / Male Idioma: En Revista: Cell Año: 2018 Tipo del documento: Article