Associated Papers
A luminescence-based biosensor to measure endogenous UBE3A activity.
Xing L et al.
Iscience, 2025
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.
Gunelson AM et al.
Journal of Human Genetics, 2025
The essential role of E3 ubiquitin ligases in the pathogenesis of neurodevelopmental and psychiatric disorders: Cul3, Cul4, Ube3a, and ZNRF1.
Ohno M et al.
Biochemical and Biophysical Research Communications, 2025
UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.
Roy B et al.
Diseases (basel, Switzerland), 2023
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.
Xing L et al.
Cell Reports, 2023
Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review.
Ryan NM et al.
Journal of Applied Genetics, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
A Scalable, Cell-based Method for the Functional Assessment of Ube3a Variants.
Stelzer JA et al.
Journal of Visualized Experiments : Jove, 2022
ToxCast chemical library Wnt screen identifies diethanolamine as an activator of neural progenitor proliferation.
Wolter JM et al.
Faseb Bioadvances, 2022
PhosVarDeep: deep-learning based prediction of phospho-variants using sequence information.
Liu X et al.
Peerj, 2022
mTOR-Dependent Spine Dynamics in Autism.
Chaudry S et al.
Frontiers in Molecular Neuroscience, 2022
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Weston KP et al.
Nature Communications, 2021
Alteration of TRIM33 Expression at Transcriptional and Translational Levels is Correlated with Autism Symptoms.
Norouzi Ofogh S et al.
Journal of Molecular Neuroscience : Mn, 2021
Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders.
Caracci MO et al.
Frontiers in Molecular Neuroscience, 2021
Mutation screening of the UBE3A gene in Chinese Han population with autism.
Zhao X et al.
Bmc Psychiatry, 2020
Molecular Evolution, Neurodevelopmental Roles and Clinical Significance of HECT-Type UBE3 E3 Ubiquitin Ligases.
Ambrozkiewicz MC et al.
Cells, 2020
Angelman Syndrome: From Mouse Models to Therapy.
Rotaru DC et al.
Neuroscience, 2020
Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome.
Sonzogni M et al.
Molecular Autism, 2020
Towards an understanding of Angelman syndrome in mice studies.
Yang X
Journal of Neuroscience Research, 2020
The Ubiquitin System: a Regulatory Hub for Intellectual Disability and Autism Spectrum Disorder.
Kasherman MA et al.
Molecular Neurobiology, 2020
Genetic Causes and Modifiers of Autism Spectrum Disorder.
Rylaarsdam L et al.
Frontiers in Cellular Neuroscience, 2019
Angelman syndrome-associated point mutations in the Zn2+-binding N-terminal (AZUL) domain of UBE3A ubiquitin ligase inhibit binding to the proteasome.
Kühnle S et al.
The Journal of Biological Chemistry, 2018
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome.
Ramirez J et al.
Human Molecular Genetics, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
UBE3A and Its Link With Autism.
Vatsa N et al.
Frontiers in Molecular Neuroscience, 2018
Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.
Copping NA et al.
Human Molecular Genetics, 2017
Autism spectrum disorder: neuropathology and animal models.
Varghese M et al.
Acta Neuropathologica, 2017
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome.
Yi JJ et al.
The Journal of Biological Chemistry, 2017
PhosphoPICK-SNP: quantifying the effect of amino acid variants on protein phosphorylation.
Patrick R et al.
Bioinformatics (oxford, England), 2017
Ubiquitylation-dependent oligomerization regulates activity of Nedd4 ligases.
Attali I et al.
The Embo Journal, 2017