Associated Papers
A luminescence-based biosensor to measure endogenous UBE3A activity.
Xing L et al.
Iscience, 2025
The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice.
Weston KP et al.
Scientific Reports, 2025
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
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
38213898 (PubMed )
Supplement: mmc2.xlsx › DNMs_in_VARGs
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Weston KP et al.
Nature Communications, 2021
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
Bossuyt SNV et al.
Human Molecular Genetics, 2021
Mutation screening of the UBE3A gene in Chinese Han population with autism.
Zhao X et al.
Bmc Psychiatry, 2020
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Yi JJ et al.
Cell, 2015
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