UBE3A Mutations – Angelman Syndrome Foundation

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 […]

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 […]

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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Categories: UBE3A Mutations

Structure-function studies to characterize UBE3A missense variants

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

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