Aleksandra Siekierska, Greet De Baets, Joke Reumers, Rodrigo Gallardo, Stanislav Rudyak, Kerensa Broersen, Jose Couceiro, Joost Van Durme, Joost Schymkowitz, Frederic Rousseau
Alpha-galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
Journal of Biological Chemistry
Background: Deficiency in alpha-galactosidase activity leads to Fabry disease, for which treatment employing pharmacological chaperones is being developed.
Results: Aggregating alpha-galactosidase mutants are not responsive to the treatment with the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).
Conclusion: Aggregation of alpha-galactosidase is a decisive factor for DGJ efficiency.
Significance: Combining pharmacological chaperones treatment with suppression of aggregation might be beneficial for future therapeutic strategy against Fabry disease.