Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.

ABSTRACT: The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs) produced by mutations in the enzymes involved in the lysosomal catabolism of glycosaminoglycans. Most of the mutations affecting these enzymes may lead to changes in processing, folding, glycosylation, pH stability, protein aggregation, and defective transport to the lysosomes. It this sense, it has been proposed that the use of small molecules, called pharmacological chaperones (PCs), can restore the folding, trafficking, and biological activity of mutated enzymes. PCs have the advantages of wide tissue distribution, potential oral administration, lower production cost, and fewer issues of immunogenicity than enzyme replacement therapy. In this paper, we will review the advances in the identification and c

SUBMITTER: Losada Diaz JC 

PROVIDER: S-EPMC6981736 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature