ArticleCell2018
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
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Article in Cell, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 1 of them a synthesis that pooled it.
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98citing papers in PubMed, 1 pooled it
5.7field-weighted citation impact, top 3% of its field
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Who cites it
98 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.Virus research · 2020Pooled it
- Systems genetics analysis reveals immune mediators of coronavirus disease severity in mice.Genetics · 2026Article
- Host Genetic Susceptibility and Antiviral Immunity Shape the Pathogenesis and Outcomes of Herpes Simplex Encephalitis.Biology · 2026Review
- The lariat RNA debranching enzyme DBR1 enhances HIF-1 signaling and chemoresistance at the expense of lariat RNA processing.The Journal of biological chemistry · 2026Article
- Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.Nature immunology · 2026Article
- Clearance of splicing byproducts promotes plant defence.Nature plants · 2026Article
- Genetic mechanisms underlying host susceptibility to central nervous system viral infections.Current opinion in infectious diseases · 2026Review
- Neuroinflammation and Senescence Are Detected in Brainstems of Mice Latently Infected with HSV-1.Pathogens (Basel, Switzerland) · 2026Article
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Defects in intron recycling suppress the antiviral response via a mechanism of intronic endogenous dsRNA.The Journal of experimental medicine · 2026Article
- U2AF regulates the translation and localization of nuclear-encoded mitochondrial mRNAs.Molecular cell · 2026Article
- Human inborn errors of type I interferon-independent intrinsic immunity in nonleukocytic cells.Current opinion in immunology · 2025Review
- The seven enigmas of SARS-CoV-2: from the past to the future.Journal of human immunity · 2025Article
- DBR1 orchestrates the fate of lariat RNA: debranching-dependent turnover and function.Nucleic acids research · 2025Review
- Human immunity.Journal of human immunity · 2025Article
- The immunogenetic basis of severe herpes simplex infections in neonates and children: a review.Pediatric research · 2025Review
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- Human DBR1 deficiency impairs stress granule-dependent PKR antiviral immunity.The Journal of experimental medicine · 2025Article
- Spatiotemporal profile of an optimal host response to virus infection in the primate central nervous system.PLoS pathogens · 2025Article
- Proteomic profiling of neonatal herpes simplex virus infection on dried blood spots.Communications medicine · 2024Article
38 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors at 20 institutions in 8 countries.
Shen-Ying ZhangSt. 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, France. Electronic address: shzh289@rockefeller.edu.
Nathaniel E ClarkDepartment of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Catherine A FreijeProgram in Immunogenomics, The Rockefeller University, New York, NY 10065, USA.
Elodie PauwelsSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Allison J TaggartDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Satoshi OkadaDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
Hanna MandelMetabolic Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 31096, Israel; Rappaport Faculty of Medicine, Haifa 31096, Israel.
Paula GarciaChild Developmental Center, Pediatric Hospital, Hospital and University Center of Coimbra, Coimbra 3000-602, Portugal.
Michael J CiancanelliSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Anat BiranSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Fabien G LafailleSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Miyuki TsumuraDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
Aurélie CobatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France.
Jingchuan LuoDepartment of Molecular Biology & Genetics, JHU School of Medicine, Baltimore, MD 21205, USA; Institute for Systems Genetics, NYU Langone Health, New York 10016, NY, USA.
Stefano VolpiPediatric and Rheumatology Clinic, Center for Autoinflammatory Diseases and Immunodeficiencies, Istituto Giannina Gaslini and University of Genoa, Genoa 16100, Italy.
Bastian ZimmerThe Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY 10065, USA.
Sonoko SakataDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
Alexandra DinisPediatric Intensive Care Unit, Pediatric Hospital, Hospital and University Center of Coimbra, Coimbra 3000-075, Portugal.
Osamu OharaDepartment 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.
Eduardo J Garcia ReinoSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Kerry DobbsLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892-1456, USA.
Mary HasekSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Stephen P HollowayDepartment of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Karen McCammonDepartment of Biochemistry and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Stacy A HussongDepartment 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.
Nicholas DeRosaDepartment 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.
Candice E Van SkikeDepartment 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.
Adam KatolikDepartment of Chemistry, McGill University, Montréal, QC H3A0B8, Canada.
Lazaro LorenzoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France.
Maki HyodoDepartment of Obstetrics and Gynecology, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
Emilia FariaImmuno-Allergy Department, Hospital and University of Coimbra, Coimbra 3000-075, Portugal.
Rabih HalwaniImmunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.
Rie FukuharaDepartment of Neonatology, Hiroshima Prefectural Hospital, Hiroshima 734-8115, Japan.
Gregory A SmithDepartment of Microbiology-Immunology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Veronica GalvanDepartment 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.
Masad J DamhaDepartment of Chemistry, McGill University, Montréal, QC H3A0B8, Canada.
Saleh Al-MuhsenImmunology Research Laboratory, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.
Yuval ItanSt. 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 Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Jef D BoekeDepartment of Molecular Biology & Genetics, JHU School of Medicine, Baltimore, MD 21205, USA; Institute for Systems Genetics, NYU Langone Health, New York 10016, NY, USA.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892-1456, USA.
Lorenz StuderThe Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research, New York, NY 10065, USA.
Masao KobayashiDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8553, Japan.
Luisa DiogoPediatric Hospital of Coimbra, Coimbra 3000-075, Portugal.
William G FairbrotherDepartment of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA; Hassenfeld Child Health Innovation Institute, Brown University, Providence, RI 02912, USA.
Laurent AbelSt. 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, France.
Brad R RosenbergProgram 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.
P John HartDepartment 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 Center at San Antonio, San Antonio, TX 78229, USA.
Amos EtzioniRappaport Faculty of Medicine, Haifa 31096, Israel; Immunology Unit, Ruth Children's Hospital, Haifa 31096, Israel.
Jean-Laurent CasanovaSt. 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, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.
Rockefeller University · USThe University of Texas Health Science Center at San Antonio · USHiroshima University · JPInstitut des Maladies Génétiques Imagine · FRUniversity of Coimbra · PTBrown University · USKettering University · USKing Saud University · SAMcGill University · CANational Institute of Allergy and Infectious Diseases · USHiroshima Prefectural Hospital · JPInserm · FRInstitute for Systems Biology · USIstituto Giannina Gaslini · ITJohns Hopkins University · USMeyer Children's Hospital · ILNorthwestern University · USRappaport Family Institute for Research in the Medical Sciences · ILRIKEN Center for Integrative Medical Sciences · JPSouth Texas Veterans Health Care System · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MDeveloping, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MTRANSGENIC COREP30AG013319 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI BRETT C GINSBURG · 1995 to 2026
$30.6MTransforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MCharacterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2MTRAINING GRANT ON THE BIOLOGY OF AGINGT32AG021890 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Erzsebet Kokovay, JAMES FLOYD NELSON · 2003 to 2026
$11.4MStudy of the Cellular Basis of Herpes Simplex Encephalitis with hPSC-Derived CNS and PNS CellsR01NS072381 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$10.2MMonogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7MBrain cellular senescence as a driver of Alzheimers DiseaseRF1AG057964 · NIA · OREGON STATE UNIVERSITY · PI GALVAN, VERONICA, MAGNUSSON, KATHY R · 2017 to 2019
$2.3MImmune profiling by high throughput sequencing of complete antigen receptorsDP5OD012142 · OD · ROCKEFELLER UNIVERSITY · PI ROSENBERG, BRAD · 2012 to 2016
$2.1MHuman DBR1 defines a new pathway of intrinsic antiviral immunity in the CNSR21NS084255 · NINDS · ROCKEFELLER UNIVERSITY · PI ZHANG, SHEN-YING · 2013 to 2014
$464kPathogenic Tau Promotes Brain Vascular Dysfunction in Alzheimer's DiseaseI01BX002211 · VA · SOUTH TEXAS VETERANS HEALTH CARE SYSTEM · PI GALVAN, VERONICA · 2015 to 2025
–NCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA008748NIAID NIH HHS R01 AI088364NIA NIH HHS P30 AG013319NIA NIH HHS T32 AG021890NIH HHS DP5 OD012142NINDS NIH HHS R01 NS072381NINDS NIH HHS R21 NS084255
Abstract
Viruses that are typically benign sometimes invade the brainstem in otherwise healthy children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities, each of whom had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus. DBR1 encodes the only known RNA lariat debranching enzyme. We show that DBR1 expression is ubiquitous, but strongest in the spinal cord and brainstem. We also show that all DBR1 mutant alleles are severely hypomorphic, in terms of expression and function. The fibroblasts of DBR1-mutated patients contain higher RNA lariat levels than control cells, this difference becoming even more marked during HSV1 infection. Finally, we show that the patients' fibroblasts are highly susceptible to HSV1. RNA lariat accumulation and viral susceptibility are rescued by wild-type DBR1. Autosomal recessive, partial DBR1 deficiency underlies viral infection of the brainstem in humans through the disruption of tissue-specific and cell-intrinsic immunity to viruses.
Indexed as
AllelesAmino Acid SequenceAnimalsBrain Diseases, Metabolic, InbornBrain StemEncephalitis, ViralEscherichia coliFemaleFibroblastsHerpesvirus 1, HumanHumansInterferonsIntronsMaleMiceMutant ProteinsDbr1 protein, humanInterferonsMutant ProteinsRNARNA NucleotidyltransferasesToll-Like Receptor 3brainstemDBR1RNA lariat debranchingviral encephalitis
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