Associated Papers
Stem cell models of Angelman syndrome.
Camões Dos Santos J et al.
Frontiers in Cell and Developmental Biology, 2023
Generation of an induced pluripotent stem cell line from a patient with Angelman syndrome carrying UBE3A mutation.
Li S et al.
Stem Cell Research, 2022
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Weston KP et al.
Nature Communications, 2021
34815418 (PubMed )
Supplement: 41467_2021_27156_MOESM3_ESM.xlsx › Sheet1
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
33607653 (PubMed )
Supplement: bossuyt-hmg-2021-d-00033-supplemental_data-final_ddab050.zip › Bossuyt-HMG-2021-D-00033-Supplemental_data-final_ddab050.pdf
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
Molecular and clinical characterization of Angelman syndrome in Chinese patients.
Bai JL et al.
Clinical Genetics, 2014
[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].
Bai JL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
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