1-4-dideoxy-1-4-imino-d-arabinitol and Glycogen-Storage-Disease-Type-II

In recent years, the function of pharmacological chaperones as a "thermodynamic stabilizer" has been attracting attention in combination therapy. The coadministration of a pharmacological chaperone and recombinant human acid α-glucosidase (rhGAA) leads to improved stability and maturation by binding to the folded state of the rhGAA and thereby promotes enzyme delivery. This study provides the first example of a strategy to design a high-affinity ligand toward lysosomal acid α-glucosidase (GAA) focusing on alkyl branches on 1-deoxynojirimycin (DNJ); 5-

Topics: 1-Deoxynojirimycin; Alkylation; alpha-Glucosidases; Enzyme Inhibitors; Fibroblasts; Glycogen Storage Disease Type II; Humans; Molecular Dynamics Simulation; Molecular Structure; Mutation; Protein Conformation; Protein Stability; Recombinant Proteins