Genetic Dissection Of The Molecular Pathways Underlying The Pathogenesis Of Angelman Syndrome

$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 amounts. This work helped focus efforts on UBE3A research to the neuron’s synaptic region in the hopes of gaining new insight about how UBE3A is important for normal brain development. This work in combination with previous funding to other investigators (see above for the 2000, Ethan Bier, grant) established the usefulness of the fruit fly as another important experimental model in the study of AS.