Definizioa eta helburua
Our lab is currently focused on understanding the molecular mechanisms that govern two neuronal diseases:
- Angelman Syndrome
- Parkisons Disease
The genetic mechanisms leading to Angelman Syndrome (AS) are well defined as the cause of the neurological disease is attributed to the loss of UBE3A gene function in the brain. However, very little is yet known about relevant aspects of UBE3A function, including its biological role, mode of regulation, interacting partners and substrates in neurons.