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Record W2992443555 · doi:10.1038/s41591-019-0672-3

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

2019· article· en· W2992443555 on OpenAlexaff
Fabien G. Lafaille, Oliver Harschnitz, Yoon Seung Lee, Peng Zhang, Mary L. Hasek, Gaspard Kerner, Yuval Itan, Osefame Ewaleifoh, Franck Rapaport, Thomas M. Carlile, Madalina E. Carter-Timofte, Dominik Paquet, Kerry Dobbs, Bastian Zimmer, Daxing Gao, María F. Rojas-Durán, Dylan Kwart, Vimel Rattina, Michael J. Ciancanelli, Jessica L. McAlpine, Lazaro Lorenzo, Soraya Boucherit, Flore Rozenberg, Rabih Halwani, Benoît Henry, N. Amenzoui, Zobaida Alsum, Laura Marques, Joseph A. Church, Saleh Al‐Muhsen, Marc Tardieu, Ahmed Aziz Bousfiha, Søren R. Paludan, Trine H. Mogensen, Lluís Quintana‐Murci, Marc Tessier‐Lavigne, Gregory A. Smith, Luigi D. Notarangelo, Lorenz Studer, Wendy V. Gilbert, Laurent Abel, Jean‐Laurent Casanova, Shen‐Ying Zhang

Bibliographic record

VenueNature Medicine · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRNA regulation and disease
Canadian institutionsHospital for Sick Children
FundersNHLBI Division of Intramural ResearchNational Institute of Biomedical Imaging and BioengineeringNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Cancer InstituteNational Center for Advancing Translational SciencesAgence Nationale de la RechercheGeorgia Clinical and Translational Science AllianceNovo Nordisk FondenLundbeckfondenDivision of Intramural Research, National Institute of Allergy and Infectious DiseasesInstitut National de la Santé et de la Recherche MédicaleNorthwestern UniversityNational Institute of Allergy and Infectious DiseasesUniversité Paris DescartesFeinberg School of MedicineNew York Stem Cell FoundationH. Lundbeck A/SNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsEncephalitisNeuroscienceImmunityHerpes simplex virusVirologyHSL and HSVBiologyImmunologyMedicineImmune systemVirus

Abstract

fetched live from OpenAlex

Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is typically sporadic. Inborn errors of TLR3- and DBR1-mediated central nervous system cell-intrinsic immunity can account for forebrain and brainstem HSE, respectively. We report five unrelated patients with forebrain HSE, each heterozygous for one of four rare variants of SNORA31, encoding a small nucleolar RNA of the H/ACA class that are predicted to direct the isomerization of uridine residues to pseudouridine in small nuclear RNA and ribosomal RNA. We show that CRISPR/Cas9-introduced bi- and monoallelic SNORA31 deletions render human pluripotent stem cell (hPSC)-derived cortical neurons susceptible to HSV-1. Accordingly, SNORA31-mutated patient hPSC-derived cortical neurons are susceptible to HSV-1, like those from TLR3- or STAT1-deficient patients. Exogenous interferon (IFN)-β renders SNORA31- and TLR3- but not STAT1-mutated neurons resistant to HSV-1. Finally, transcriptome analysis of SNORA31-mutated neurons revealed normal responses to TLR3 and IFN-α/β stimulation but abnormal responses to HSV-1. Human SNORA31 thus controls central nervous system neuron-intrinsic immunity to HSV-1 by a distinctive mechanism.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.008
GPT teacher head0.290
Teacher spread0.282 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations112
Published2019
Admission routes1
Has abstractyes

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