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Chem Biodivers ; 21(8): e202401104, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38847390

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.


Subject(s)
Glucosylceramidase , Mutation , Humans , Glucosylceramidase/metabolism , Glucosylceramidase/genetics , Glucosylceramidase/antagonists & inhibitors , Imino Sugars/chemistry , Imino Sugars/pharmacology , Imino Sugars/chemical synthesis , Imino Sugars/metabolism , Fibroblasts/drug effects , Fibroblasts/metabolism , Gaucher Disease/genetics , Gaucher Disease/drug therapy , Gaucher Disease/metabolism , Molecular Structure
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