Evidence map›Paper›PMID 40097479›Full record

ArticleScientific reports2025

The gain-of-function UBE3A

Kellan P Weston, Anna M Gunelson, Susan E Maloney, Xia Ge, Jalin A Stelzer, Kwang-Soo Kim, Shylyn Collier, Marissa M Mindt, Megan J Agajanian, Michael B Major and 3 more

Abstract read
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Article
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

13 authors.

Kellan P WestonDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Anna M GunelsonDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Susan E MaloneyDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Xia GeDepartment of Radiology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Jalin A StelzerDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Kwang-Soo KimDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Shylyn CollierDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Marissa M MindtDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Megan J AgajanianDepartment of Cell Biology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Michael B MajorDepartment of Cell Biology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Dennis GoldfarbDepartment of Cell Biology, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Kevin K NoguchiDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Jason J YiDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO, 63110, USA. jasonyi@wustl.edu.

Funding

WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JEFFREY D MILBRANDT · 2020 to 2026
$15.5M
Neuroscience Training Program at Washington UniversityT32NS121881 · NINDS · WASHINGTON UNIVERSITY · PI Martha W Bagnall, Daniel Kerschensteiner · 2021 to 2026
$3.1M
Understanding the mechanisms of UBE3A regulation in neuronal developmentR01MH122786 · NIMH · WASHINGTON UNIVERSITY · PI YI, JASON J · 2021 to 2025
$2.0M
National Institute of Child Health and Human Development P50HD103525NICHD NIH HHS P50 HD103525NIMH NIH HHS R01 MH122786NIMH NIH HHS R01MH122786NINDS NIH HHS T32 NS121881Simons Foundation Autism Research Initiative Bridge to Independence Award
6 · The paper itself

Abstract

Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of such phenotypic diversity. Here, we characterize a mouse model harboring a Ube3a

Indexed as

Angelman SyndromeDisease Models, AnimalUbiquitin-Protein LigasesAnimalsBehavior, AnimalBrainFemaleMaleMice, Inbred C57BLMice, TransgenicMicrocephalyMotor Skills DisordersPhenotypeProteomeProteomeUbe3a protein, mouseUbiquitin-Protein Ligases

Identifiers

PMID40097479
PMCPMC11914044

What OpenQuestion holds

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Registered trials

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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.