SHANK3 mutations in Phelan–McDermid syndrome

The Phelan-McDermid syndrome (PMS) is a rare genetic disease characterized by neurological symptoms. The cause at the root of this condition is a genetic alteration of the SHANK3 gene. This gene encodes for a protein that acts as a scaffold at the synapse, regulating its structure and function through the interaction with other synaptic proteins. To gain insights into the molecular roles of SHANK3, with the final aim of identifying novel pharmacological targets, we will apply biochemical techniques to find new binding partners. The results will be confirmed in human stem cells differentiated into neurons, the most affected cell type of the syndrome, and the findings will be further explored, also from a pharmacological point of view, in future grant applications.