Associated Papers
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
Bruns R et al.
Congenital Anomalies, 2024
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 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
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