Associated Papers
A luminescence-based biosensor to measure endogenous UBE3A activity.
Xing L et al.
Iscience, 2025
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
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages A et al.
Molecular Genetics & Genomic Medicine, 2020
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R et al.
Nature Neuroscience, 2019
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Yi JJ et al.
Cell, 2015
Mutation Update for UBE3A variants in Angelman syndrome.
Sadikovic B et al.
Human Mutation, 2014
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