Ricerc@Sapienza

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder.

he search for novel lipid A analogues from anybiological source that can act as antagonists, displaying in-hibitory activity towards the production of pro-inflammatorycytokines, or as immunomodulators in mammals, is a verytopical issue. To this aim, the structure and immunologicalproperties of the lipopolysaccharide lipid A from the purplenonsulfur bacterium Rhodopseudomonas palustris strainBisA53 have been determined.