2012| July

Publication with Kerensa Broersen

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.

Website: http://www.jbc.org/content/early/2012/07/06/jbc.M112.351056.full.pdf+html