The specific aims of the research project are the following:
To investigate the role of sacsin in autophagy we will propose to answer the following questions:
1. Is autophagy defective in sacsin KD (knockdown) cells, such as SH-SY5Y or ARSACS skin fibroblasts? If yes, where is the stop in the autophagy process and how the autophagy flux operates?
2. Are CASA and mitophagy independent or co-dependent functional pathways in ARSACS? What are the

Dr. Federica Morani

Dr. Federica Morani

autophagy-related interactors of sacsin?
3. Can pharmacological or genetic induction/up-regulation of autophagy in sacsin KD cells/ skin fibroblasts from ARSACS patients rescue ARSACS phenotype (in terms of cell death/PC degeneration, mitochondrial dysfunction)?

Duration: one year
Grant: $55,000

Dr. Federica Morani, PhD, Neurogenetics and Molecular Medicine Laboratory, IRCCS Fondazione Stella Maris

Via dei Giacinti 2, 56128 Calambrone (PISA), Italy

Tel: (39)050-886238; Fax:(39)50-88247