Evidence map›Paper›PMID 30686997›Full record

ReviewFrontiers in molecular neuroscience2018

UBE3A: An E3 Ubiquitin Ligase With Genome-Wide Impact in Neurodevelopmental Disease.

Simon Jesse Lopez, David J Segal, Janine M LaSalle

Open access · goldAbstract readReview
In one paragraph

Review in Frontiers in molecular neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
4.8field-weighted citation impact, top 5% 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

38 citing papers in PubMed, 1 synthesis or guideline pooled it, 72 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
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  5. Review
  6. Review
  7. Article
  8. Article
  9. Cofilin Inhibition Ameliorates PIEZO2 and AMPA Dysfunction in a Mouse Model of Angelman Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Article
  10. Article
  11. Article
  12. A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  13. Dietary Intake of Octanoic Acid Restores UBE3A Expression and Improves the Behavioral Phenotypes in a Mouse Model of Angelman Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
  14. Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration.International journal of molecular sciences · 2025
    Review
  15. Article
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  17. Article
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  20. Review
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

3 authors at 1 institution in 1 country.

Simon Jesse LopezDepartment of Medical Immunology and Microbiology, University of California, Davis, Davis, CA, United States.
David J SegalGenome Center, University of California, Davis, Davis, CA, United States.
Janine M LaSalleDepartment of Medical Immunology and Microbiology, University of California, Davis, Davis, CA, United States.
University of California, Davis · US

Funding

Imprinted snoRNA loci and circadian entrainmentR01HD098038 · NICHD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LASALLE, JANINE M · 2019 to 2023
$2.5M
Methylomic and genomic impacts of organic pollutants in Dup15q syndromeR01ES021707 · NIEHS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LASALLE, JANINE M · 2012 to 2016
$1.8M
Noncoding RNAs at the heart of the Prader-Willi locusR56NS076263 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LASALLE, JANINE M · 2017 to 2017
$532k
Methylomic and genomic impacts of organic pollutants in Dup15q syndromeR56ES021707 · NIEHS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LASALLE, JANINE M · 2017 to 2017
$150k
NICHD NIH HHS R01 HD098038NIEHS NIH HHS R01 ES021707NIEHS NIH HHS R56 ES021707NINDS NIH HHS R56 NS076263
6 · The paper itself

Abstract

UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication leads to distinct neurodevelopment disorders Angelman and Dup15q syndromes. Despite the known genetic basis of disease, how changes in copy number of a ubiquitin ligase gene can have widespread impact in early brain development is poorly understood. Previous studies have identified a wide array of UBE3A functions, interaction partners, and ubiquitin targets, but no central pathway fully explains its critical role in neurodevelopment. Here, we review recent UBE3A studies that have begun to investigate mechanistic, cellular pathways and the genome-wide impacts of alterations in UBE3A expression levels to gain broader insight into how UBE3A affects the developing brain. These studies have revealed that UBE3A is a multifunctional protein with important nuclear and cytoplasmic regulatory functions that impact proteasome function, Wnt signaling, circadian rhythms, imprinted gene networks, and chromatin. Synaptic functions of UBE3A interact with light exposures and mTOR signaling and are most critical in GABAergic neurons. Understanding the genome-wide influences of UBE3A will help uncover its role in early brain development and ultimately lead to identification of key therapeutic targets for UBE3A-related neurodevelopmental disorders.

Indexed as

Angelman syndromeautism (ASD)human genetics and genomicsneurodevelopmentparental imprintingsynapse

Identifiers

PMID30686997
PMCPMC6338038
OpenAlexW2907053092

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.