Fig. 1.

The effect of pharmacological chaperones on misfolded lysosomal enzymes and on recombinant enzymes used in ERT. Lysosomal enzymes are assisted by molecular chaperones during synthesis. Mutated enzymes fail to fold correctly and are intercepted by the quality control (QC) system of the endoplasmic reticulum (ER). a Pharmacological chaperones favor proper folding of mutated enzymes, prevent their recognition by the quality control system and stabilize the enzyme during transport to their destination. b Pharmacological chaperones can enhance the effect of recombinant enzymes administered in ERT by favoring trafficking to lysosomes and increasing enzyme stability