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articles and announcements

Categories: UBE3A Mutations

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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Dr. Ype Elgersma
February 3, 2023

Individuals with ICD/UPD Mutations Participating in ASO Trials

$99,000 2 years Angelman syndrome (AS) is caused by loss of maternal UBE3A expression. In neurons, paternal UBE3A is silenced by the UBE3A-ATS transcript, resulting in a total loss of UBE3A in AS neurons. Promising preclinical data by the Beaudet […]

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Dr. Jason Yi
January 15, 2020

Structure-function studies to characterize UBE3A missense variants

A potentially valuable approach to understand UBE3A function is the characterization of non-truncating missense variants that change one or a few amino acids in the protein. There are hundreds of UBE3A variants, and their functional significance is virtually unknown. The […]

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Dr. Mark Zylka
December 21, 2019

Studies to Determine How Angelman Syndrome-associated Missense Mutations Disrupt UBE3A Function

$200,000 (2 years) Angelman syndrome (AS) is typically caused by genomic deletions that encompass the maternal copy of UBE3A.  In some patients with AS, the UBE3A protein is present but with a single amino acid change known as a missense […]

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December 21, 2019

Preclinical Validation of Behavioral, Molecular, and Electrophysiological Effects of Acamprosate in a Mouse Model of Angelman Syndrome

$81,631 The principal objective of these studies is to determine if acamprosate, a drug that is approved by the Food and Drug Administration for the treatment of alcoholism in adults and works to correct imbalances in excitatory and inhibitory signaling […]

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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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