Private: Analyses of SHANK proteins using human IPSC-derived neurons

Présentation

The aim of this project is to identify neuronal phenotypic alterations caused by mutations in SHANK3 genes using IPSC-derived neurons. SHANK proteins are scaffolding proteins at synapses and play important roles in synaptogenesis. The study of SHANK3 is of particular importance since mutations in this gene could affect  1-2% of patients with ASD and intellectual disability.