Topic: SUMO1

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

SUMOylation is a covalent and reversible attachment of an 11 kDa SUMO (Small Ubiquitin-like MOdifier) protein to a lysine residue. SUMOylation act as a biochemical switch to regulate the function of hundreds of proteins in different pathways. In the brain of vertebrates, three main SUMO isoforms (SUMO1-3) are characterized. While SUMO2 and SUMO3 differ by only three N-terminal amino acids, they only share ~50% of their sequences with SUMO1. Global levels of SUMOylated proteins are altered in several neurodegenerative diseases; however, no data are currently available in Fronto-temporal dementi