The main objectives of this research project are to:
(i) verify if a co-translational QC is the cause of sacsin absence in patients, thus uncovering the
earliest step in ARSACS pathogenesis;
(ii) ameliorate genotype-phenotype correlation in ARSACS by assaying residual amount of sacsin
levels in a panel of patient fibroblasts carrying different mutations.
The comprehension of the molecular mechanism underlying loss of mutant sacsin is crucial to
improve the knowledge on ARSACS pathogenesis.
Duration: One year
Grant : $40,000
Contact:
Dr. Francesca Maltecca
Dr. Francesca Maltecca, Universita Vita-Salute San Raffaele
Via Olgettina 60 20132 Milan, Italy
Tel:39 022643.9116; Fax: 39 022643.6352 ; Email: maltecca.francesca@hsr.it