Evidence map›Paper›PMID 30559470›Full record

ArticleNature neuroscience2019

Widespread RNA editing dysregulation in brains from autistic individuals.

Stephen S Tran, Hyun-Ik Jun, Jae Hoon Bahn, Adel Azghadi, Gokul Ramaswami, Eric L Van Nostrand, Thai B Nguyen, Yun-Hua E Hsiao, Changhoon Lee, Gabriel A Pratt and 5 more

Abstract read
In one paragraph

Article in Nature neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed, 2 pooled it
12.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

136 citing papers in PubMed, 2 syntheses or guidelines pooled it, 230 citations in OpenAlex.

  1. Variable expression ofProceedings of the National Academy of Sciences of the United States of America · 2024
    Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Transcriptomic Convergence in Autism Spectrum Disorder: Synaptic, Immune-Glial and RNA-Regulatory Axes in the Human Cerebral Cortex.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026
    Review
  6. The mMolecular psychiatry · 2026
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. ADAR-GPT: A continually fine-tuned language model for predicting A-to-I RNA editing sites.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  14. Integrated genetic analysis reveals synaptic mFrontiers in molecular neuroscience · 2026
    Article
  15. Article
  16. The Role of mRNA Alternative Processing in Mammalian Neurodevelopment.International journal of molecular sciences · 2025
    Review
  17. Article
  18. Article
  19. Comprehensive characterization of the RNA editing landscape in the human aging brains with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  20. Review

76 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 5 institutions in 1 country.

Stephen S TranBioinformatics Interdepartmental Program, UCLA, Los Angeles, CA, USA.
Hyun-Ik JunDepartment of Integrative Biology and Physiology, UCLA, Los Angeles, CA, USA.
Jae Hoon BahnDepartment of Integrative Biology and Physiology, UCLA, Los Angeles, CA, USA.
Adel AzghadiDepartment of Integrative Biology and Physiology, UCLA, Los Angeles, CA, USA.
Gokul RamaswamiDepartment of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Eric L Van NostrandDepartment of Cellular and Molecular Medicine, UCSD, La Jolla, CA, USA.ORCID http://orcid.org/0000-0002-5188-0082
Thai B NguyenDepartment of Cellular and Molecular Medicine, UCSD, La Jolla, CA, USA.
Yun-Hua E HsiaoDepartment of Bioengineering, UCLA, Los Angeles, CA, USA.
Changhoon LeeDepartment of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Gabriel A PrattDepartment of Cellular and Molecular Medicine, UCSD, La Jolla, CA, USA.
Verónica Martínez-CerdeñoDepartment of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, CA, USA.
Randi J HagermanThe MIND Institute, Department of Pediatrics, UC Davis School of Medicine, Sacramento, CA, USA.
Gene W YeoDepartment of Cellular and Molecular Medicine, UCSD, La Jolla, CA, USA.
Daniel H GeschwindDepartment of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. dhg@mednet.ucla.edu.ORCID http://orcid.org/0000-0003-2896-3450
Xinshu XiaoBioinformatics Interdepartmental Program, UCLA, Los Angeles, CA, USA. gxxiao@ucla.edu.ORCID http://orcid.org/0000-0002-9362-8029
University of California, Los Angeles · USUniversity of California San Diego · USCenter for Autism and Related Disorders · USUniversity of California, Davis · USLa Jolla Bioengineering Institute · US

Funding

Single-cell approaches to deconvolution of disease-associated signalsU19MH107367 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MUOTRI, ALYSSON R. · 2015 to 2019
$15.0M
GENOTYPE/PHENOTYPE RELATIONSHIPS IN FRAGILE X FAMILIESR01HD036071 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI PAUL J HAGERMAN, RANDI J. HAGERMAN · 1998 to 2026
$13.8M
Comprhensive analysis of functional RNA elements encoded in the human genomeU54HG007005 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI GRAVELEY, BRENTON R. · 2012 to 2017
$12.5M
Functional RNA elements in the human genomeR01HG004659 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Kevin Daniel Corbett, Eugene Wei-Ming Yeo · 2008 to 2026
$12.4M
Training Grant in Genomic Analysis and InterpretationT32HG002536 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Valerie A Arboleda, Harold Pimentel · 2002 to 2026
$8.6M
Cortical and subcortical chandelier cell pathophysiology and symptomatology in autismR01MH094681 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Veronica Martinez-Cerdeno · 2011 to 2026
$6.5M
Analysis of functional genetic variants in RNA processing and expressionU01HG009417 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI XIAO, XINSHU GRACE · 2017 to 2021
$3.2M
Functional genetic variations in splicing regulationR01HG006264 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI XIAO, XINSHU GRACE · 2012 to 2016
$1.5M
Robust, high-throughput identification of RNA processing regulators and regulatory networks genome-wideR00HG009530 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI VAN NOSTRAND, ERIC LYMAN · 2020 to 2022
$747k
Robust, high-throughput identification of RNA processing regulators and regulatory networks genome-wideK99HG009530 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI VAN NOSTRAND, ERIC LYMAN · 2017 to 2018
$250k
Systems level integration of genetic, transcriptomic, and epigenomic data in autismF32MH114620 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI RAMASWAMI, GOKUL · 2018 to 2019
$111k
NHGRI NIH HHS K99 HG009530NHGRI NIH HHS R00 HG009530NHGRI NIH HHS R01 HG004659NHGRI NIH HHS R01 HG006264NHGRI NIH HHS T32 HG002536NHGRI NIH HHS U01 HG009417NHGRI NIH HHS U54 HG007005NICHD NIH HHS R01 HD036071NIMH NIH HHS F32 MH114620NIMH NIH HHS R01 MH094681NIMH NIH HHS U19 MH107367
6 · The paper itself

Abstract

Transcriptomic analyses of postmortem brains have begun to elucidate molecular abnormalities in autism spectrum disorder (ASD). However, a crucial pathway involved in synaptic development, RNA editing, has not yet been studied on a genome-wide scale. Here we profiled global patterns of adenosine-to-inosine (A-to-I) editing in a large cohort of postmortem brains of people with ASD. We observed a global bias for hypoediting in ASD brains, which was shared across brain regions and involved many synaptic genes. We show that the Fragile X proteins FMRP and FXR1P interact with RNA-editing enzymes (ADAR proteins) and modulate A-to-I editing. Furthermore, we observed convergent patterns of RNA-editing alterations in ASD and Fragile X syndrome, establishing this as a molecular link between these related diseases. Our findings, which are corroborated across multiple data sets, including dup15q (genomic duplication of 15q11.2-13.1) cases associated with intellectual disability, highlight RNA-editing dysregulation in ASD and reveal new mechanisms underlying this disorder.

Indexed as

RNA EditingAdenosine DeaminaseAutistic DisorderBrainFragile X Messenger Ribonucleoprotein 1Gene Expression ProfilingHumansNeuronsRNA-Binding ProteinsADAR protein, humanAdenosine DeaminaseFragile X Messenger Ribonucleoprotein 1FXR1 protein, humanRNA-Binding Proteins

Identifiers

PMID30559470
PMCPMC6375307
OpenAlexW2905504964

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.