The role of nuclear UBE3A in the pathophysiology of Angelman Syndrome

Project summary

Patients with Angelman syndrome (AS) have a severe intellectual disability, no speech, poor motor skills and often epilepsy and behavioral problems. Currently, there is no treatment for this serious condition, and therefore these patients need lifelong intensive care. AS is caused by the loss of the UBE3A enzyme. Knowledge about the role of this enzyme is important for the development of a therapy.
To date, research has focused primarily on the role of the enzyme in contact points (synapses) between brain cells. However, the researchers have found that the enzyme moves to the cell nucleus after birth of the synapse. This surprising discovery raises many questions. How does the enzyme get into the cell nucleus? Why does it only go to the cell nucleus after birth? What does the enzyme do in the cell nucleus?

This project will shed new light on the mechanisms that underlie AS. More knowledge about the role of the UBE3A enzyme is important for the development of a therapy for AS.