NOVEL FUNCTIONS OF THE NEURAL CELL ADHESION MOLECULE L1 AND IMPLICATIONS FOR THE PATHOGENESIS OF L1 SYNDROME

L1 is membrane protein that plays a crucial role in the development of the central nervous system. Mutations of the L1 gene induce various neurological defects known as the L1 syndrome or the CRASH syndrome.Our research aims at identifying novel functions of L1, based on data previosly published by our group and on our preliminary results, which suggest a functional interaction between L1 and a family of membrane receptors (FGFRs) able to transmit various signals inside the cell. Our experimental approach will have relevant implications in the characterization of the physiological role of L1 and of the L1/FGFR complex. Moreover, our studies will enable us to verify whether the pathogenetico role of L1 mutations is due, at least in part, to an altered molecular "communication" between L1 and the FGFRs. Therefore, the results of our research might open novel therapeutic oppotunities aimed at preventing or treating the neurological defects associated with the L1 syndrome.