My research interests are focused on unraveling the molecular mechanisms underlying neuronal development and disease. At the beginning of my career I have intensively studied the pathogenic mechanisms of Spinal Muscular Atrophy (SMA), a genetic disease caused by mutations in the SMN1 gene. The SMN protein is involved in several aspects of RNA metabolism and it is necessary for survival of motor neurons. All patients express very low level of full length SMN, however they carry at least a copy of the SMN2 gene, a gene nearly identical to SMN1 that produces mostly a splicing isoform lacking exon 7. I have worked on generating animal models of the disease and I also investigated therapeutic approaches aimed at increasing the amount of full length SMN protein produced either by modification of the splicing pattern or by increased transcription of the SMN2 gene. I have also contributed to studies that have pinpointed a defect in RNA localization in axons of SMA mice as a possible pathogenic mechanism for SMA. Therefore, I got interested in understanding RNA metabolism in axons of mammalian neurons, a topic that was little explored at the time. Since a few years, I am now investigating the role of mRNA localization and metabolism in sympathetic neurons during axon development in response to Nerve Growth Factor. Combining sophisticated cell culture and molecular biology techniques, I am studying the role of 3鈥� UTRs in mRNA transport and local translation. I have found a sequence that directs mRNA transport in NGF-dependent manner and I am investigating how cleavage and shortening of the 3UTR in axons affect mRNA translation.
Close
