Professional Research Assistant

Ph.D. in Biology, University of Pavia (Italy), 1983

The main focus of my research is the myosin heavy chain molecule. I have developed fluorescently tagged WT and mutant myosin constructs and analyzed the effects of myopathy causing rod mutations on myosin assembly in myogenic and non-myogenic cell lines. I have investigated the ability of the mutant molecules to be incorporated into the sarcomere, and the structure of the thick filament. Recently, I have generated a transgenic mouse model for a skeletal muscle disease, the Laing distal myopathy. These mice carry a single arginine to proline mutation in the β-myosin rod domain and now I am in the process of analyzing their phenotype.