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Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers
Maria Giulia Davighi1, Francesca Clemente1, Emilie Sperling Andreasen2
1Department of Chemistry "U. Schiff", University of Florence, via della Lastruccia 3-13, 50019, Sesto F.no (FI), Italy.
Chemistry & Biodiversity
|June 7, 2024
Abstract:
A remarkable enhancer of human glucocerebrosidase enzyme (GCase) was identified among a set of dihydroazulene-tagged iminosugars. An unprecedented 3.9-fold increase in GCase activity was detected on fibroblasts bearing the homozygous L444P mutation, which is frequently associated with neuronopathic Gaucher forms, and which commonly results refractory to chaperone-induced refolding.

