Mechanisms of synaptic dysfunction in the Angelman Syndrome
Federica Baronchelli, Martina Biagioni, Margherita Fini, Martina Di Nunzio, Alessandra Folci, Matteo Fossati · FENS Forum 2024
The Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of the maternally expressed UBE3A gene, which encodes an E3 ubiquitin ligase. Although considerable efforts have been put to dissect UBE3A function in the brain, the pathogenic mechanisms remain largely unknown and effective treatments are not available yet. Being an E3 ubiquitin ligase, defective ubiquitination, which may occur in either nuclear or cytosolic compartments, is thought to be a primary mechanism underlying synaptic dysfunction in AS. Increasing evidence indicates a tight functional interplay betwe
ePoster · Neuroscience