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articles and announcements

Categories: HERC2

February 9, 2023

Contribution of hemizygous HERC2 deletion to Angelman syndrome pathophysiology

$200,000 2 years Individuals with a deletion of chromosome 15q11-q13 suffer from Angelman syndrome (AS), a neurogenetic developmental disorder characterized by intellectual disability, motor ataxia, absent speech, and seizures. The specific gene that is responsible for AS encodes the ubiquitin […]

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Headshot of Dr. Gilles Trave
November 12, 2019

Role of UBE3A-HERC2 Complex in Angelman Syndrome: 3D Structure and Quantitative Interactomics

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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The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.

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