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.
Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers / Maria Giulia Davighi, Francesca Clemente, Emilie Sperling Andreasen, Mogens Brøndsted Nielsen, Camilla Matassini, Andrea Goti, Amelia Morrone, Paolo Paoli, Francesca Cardona, Martina Cacciarini. - In: CHEMISTRY & BIODIVERSITY. - ISSN 1612-1880. - ELETTRONICO. - (2024), pp. e202401104.1-e202401104.7. [10.1002/cbdv.202401104]
Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers
Maria Giulia Davighi;Francesca Clemente;Camilla Matassini
;Andrea Goti;Amelia Morrone;Paolo Paoli;Francesca Cardona;Martina Cacciarini
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.
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Chemistry Biodiversity - 2024 - Davighi - Iminosugar‐Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers.pdf
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