ArticleCell reports2023
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.
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Article in Cell reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
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Who cites it
18 citing papers in PubMed.
- Review
- Review
- AnnQ: reference-based quantification of cellular abnormality at single-cell resolution.Briefings in bioinformatics · 2026Article
- A dual-reporter mouse for therapeutic discovery in Angelman syndrome.JCI insight · 2026Article
- WWP1 gain-of-function drives developmental anoikis through TGFβ pathway during neurodevelopment.Cell death discovery · 2026Article
- Article
- Single-nucleus multi-omics identifies shared and distinct pathways in Pick's and Alzheimer's disease.Science advances · 2025Article
- Identifying environmental chemicals impacting neurodevelopment using a random mixture-based screening approach.Toxicological sciences : an official journal of the Society of Toxicology · 2025Article
- Loss of UBE3A impacts both neuronal and non-neuronal cells in human cerebral organoids.Communications biology · 2025Article
- The gain-of-function UBE3AScientific reports · 2025Article
- Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration.International journal of molecular sciences · 2025Review
- Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder.iScience · 2025Article
- Ubiquitin-Proteasome-Mediated Protein Degradation and Disorders of the Central Nervous System.International journal of molecular sciences · 2025Review
- Review
- Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.Current opinion in neurobiology · 2024Review
- Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey.Frontiers in neuroanatomy · 2024Article
- Stem cell models of Angelman syndrome.Frontiers in cell and developmental biology · 2023Review
- Altered motor learning and coordination in mouse models of autism spectrum disorder.Frontiers in cellular neuroscience · 2023Review
Corrections and comments
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Authors and funding
11 authors.
Lei XingUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Jeremy M SimonUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Campus Box #7255, Chapel Hill, NC 27599, USA; Department of Genetics, The University of North Carolina at Chapel Hill, Campus Box #7264, Chapel Hill, NC 27599, USA.
Travis S PtacekUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Campus Box #7255, Chapel Hill, NC 27599, USA.
Jason J YiUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Campus Box #7255, Chapel Hill, NC 27599, USA.
Lipin LooUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Hanqian MaoUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Campus Box #7255, Chapel Hill, NC 27599, USA.
Justin M WolterUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Campus Box #7255, Chapel Hill, NC 27599, USA; Department of Genetics, The University of North Carolina at Chapel Hill, Campus Box #7264, Chapel Hill, NC 27599, USA.
Eric S McCoyUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Smita R ParanjapeUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Bonnie Taylor-BlakeUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Mark J ZylkaUNC Neuroscience Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Carolina Institute for Developmental Disabilities, The University of North Carolina at Chapel Hill, Campus Box #7255, Chapel Hill, NC 27599, USA. Electronic address: zylka@med.unc.edu.
Funding
Virology Research Program (Program 4)P30CA016086 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Deborah F. Tate · 1985 to 2026
$201.5MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3MUNC Neuroscience Center Research Cores: MicroscopyP30NS045892 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ZYLKA, MARK J. · 2003 to 2022
$11.5MPreclinical CoreP50HD103573 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GABRIEL S DICHTER · 2020 to 2026
$9.7MPreclinical CoreU54HD079124 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI LI, YUN · 2013 to 2019
$8.0MUBE3A gain-of-function and parent-of-origin influence on neurodevelopmental phenotypesR01MH120229 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI PHILPOT, BENJAMIN D, ZYLKA, MARK J. · 2019 to 2023
$3.4MNCI NIH HHS P30 CA016086NICHD NIH HHS P50 HD103573NICHD NIH HHS U54 HD079124NIEHS NIH HHS P30 ES010126NIMH NIH HHS R01 MH120229NINDS NIH HHS P30 NS045892
Abstract
The E3 ubiquitin ligase Ube3a is biallelically expressed in neural progenitors and glial cells, suggesting that UBE3A gain-of-function mutations might cause neurodevelopmental disorders irrespective of parent of origin. Here, we engineered a mouse line that harbors an autism-linked UBE3A
Indexed as
Angelman SyndromeAutistic DisorderAnimalsDisease Models, AnimalGain of Function MutationInterneuronsMaternal InheritanceMicePhenotypeUbiquitin-Protein LigasesUbe3a protein, mouseUbiquitin-Protein LigasesAngelman syndromeautismCP: Neuroscienceneurodevelopmental disorderssingle-cell RNA-seqUBE3A
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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.