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Activity-Dependent Regulation Of Extracellular Ube3a In A Novel Angelman Syndrome Rat Model, Andie Dodge

USF Tampa Graduate Theses and Dissertations

Angelman Syndrome (AS) is a rare genetic and neurologic disorder affecting approximately 1 in every 15,000 people. This disorder is characterized by seizures, absence of speech, motor and cognitive deficits, ataxia, and notably an abnormal happy demeanor with frequent smiling and laughter. A neuron-specific loss of function of the maternal allele of UBE3A, encoding for an E3 ubiquitin ligase, leads to the manifestation of AS. There are currently no cures for AS and few therapeutic options to abate symptoms. Although much investigation is required, research using the null mutation AS mouse model suggests a plausible case for pharmacological intervention.

Major …