Iminosugar‐Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers-Reference-Cited by-同舟云学术

Iminosugar‐Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers

Published:2024-07-23 Issue:8 Volume:21 Page:
ISSN:1612-1872
Container-title:Chemistry & Biodiversity
language:en
Short-container-title:Chemistry & Biodiversity

Author:

Davighi Maria Giulia¹^ORCID,Clemente Francesca¹^ORCID,Andreasen Emilie Sperling²^ORCID,Nielsen Mogens Brøndsted²^ORCID,Matassini Camilla¹^ORCID,Goti Andrea¹^ORCID,Morrone Amelia³⁴^ORCID,Paoli Paolo⁵^ORCID,Cardona Francesca¹^ORCID,Cacciarini Martina¹²^ORCID

Affiliation:

1. Department of Chemistry “U. Schiff” University of Florence via della Lastruccia 3–13 50019 Sesto F.no (FI) Italy

2. Department of Chemistry University of Copenhagen Universitetsparken 5 DK-2100 Copenhagen Ø Denmark

3. Laboratory of Molecular Genetics of Neurometabolic Diseases Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS Viale Pieraccini 24 50139 Firenze Italy

4. Department of Neurosciences Psychology Drug Research and Child Health, University of Florence Viale Pieraccini 24 50139 Firenze Italy

5. Department of Experimental and Clinical Biomedical Sciences University of Florence Viale Morgagni 50 50134 Firenze Italy

Abstract

AbstractA 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.

Funder

Ministero dell'Università e della Ricerca

Regione Toscana

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/cbdv.202401104

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