De Jaco Antonella

Biography

2001 PhD in Cell and Developmental Biology, Sapienza University of Rome. 1996 B.Sc. in Biology cum laude, Sapienza University of Rome.

Research Interest

My research interest is focused on studying alterations in proteins belonging to the alpha / beta-hydrolase fold superfamily in association with diseases. In particular, I'm focused on studying a family of post-synaptic cell adhesion proteins, the Neuroligins (NLGNs) that play a major role in the synapse functional maturation. Genetic alterations (point mutations, exon deletions, and premature truncations) have been reported in the genes encoding for NLGN3 and NLGN4in patients with Autism Spectrum Disorders. I have contributed in the characterization of ASDs related mutations, found in the NLGNs, in particular the Arg451Cys substitution that arose naturally in two autistic brothers. Bybiochemical and cellular approaches it has been shown that the mutant protein results retained in the endoplasmic reticulum blocking the processing of the NLGN3 protein and its exposure to the cell surface.