Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets

The majority of mutations causing diseases affect protein stability and not functional sites. The mutant protein can be rescued by pharmacological chaperones that bind the native conformation and push back the equilibrium thus reverting the pathological phenotype. We apply this approach to Fabry disease and to PMM2-CDG, a disorder of glysosylation with no cure at present.