June 24, 2020
Angelman syndrome is caused by deletions or mutations of the maternally‐inherited gene copy of UBE3A. The paternally‐inherited gene copy of UBE3A lies dormant, thus loss of the maternal UBE3A gene copy leads to a near complete loss of UBE3A protein […]
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December 22, 2019
$85,000 This scientist performed studies on Drosophila, the fruit fly, to determine how UBE3A dosage affects neuron development. The results demonstrated that synaptic connections and dendritic processes are abnormal both when the UBE3A protein is in high and in low […]
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November 12, 2019
This research project is jointly funded by the ASF and Dup15q Alliance. UBE3A is a protein that tags other proteins to be disposed of in the cell. It interacts with another protein, HERC2, which also has a similar function. Individuals […]
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