{Reference Type}: Journal Article
{Title}: Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers.
{Author}: Davighi MG;Clemente F;Andreasen ES;Nielsen MB;Matassini C;Goti A;Morrone A;Paoli P;Cardona F;Cacciarini M;
{Journal}: Chem Biodivers
{Volume}: 0
{Issue}: 0
{Year}: 2024 Jun 7
{Factor}: 2.745
{DOI}: 10.1002/cbdv.202401104
{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.