Ricerc@Sapienza

My research is focused on the study of mutations arising in neurodevelopmental disorders in the family of the Neuroligins, cell adhesion synaptic proteins that play a crucial role in the maturation of the synapse.

Specifically, we study the cellular phenotype caused by the human R451C mutation in Neuroligin3 found in autistic patients. Our previous studies focused on biochemical analysis of protein folding, trafficking and the activation of cellular responses. More recently we have aquired experience with the monogenic mouse model of autism, knock in for R451C Neuroligin3, that was crucial to confirm that cellular and molecular mechanisms caused by the mutation in several in vitro cell systems are conserved in vivo. More recently we have been interested in developing strategies to revert the phenotype and promote the rescue of the impaired trafficking of Neuroligin3 caused by the mutation, both in vitro and in vivo model systems. Since the main features of the in vivo mouse model are in the social impairments, my lab has developed good expertise in behavioral tests to monitor the effect of different treatments on the endophenotype.