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Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers.
Davighi, Maria Giulia; Clemente, Francesca; Andreasen, Emilie Sperling; Nielsen, Mogens Brøndsted; Matassini, Camilla; Goti, Andrea; Morrone, Amelia; Paoli, Paolo; Cardona, Francesca; Cacciarini, Martina.
Afiliación
  • Davighi MG; Department of Chemistry "U. Schiff", University of Florence, via della Lastruccia 3-13, 50019, Sesto F.no (FI), Italy.
  • Clemente F; Department of Chemistry "U. Schiff", University of Florence, via della Lastruccia 3-13, 50019, Sesto F.no (FI), Italy.
  • Andreasen ES; Department of Chemistry, University of Copenhagen, Universitetsparken 5, DK-2100, Copenhagen Ø, Denmark.
  • Nielsen MB; Department of Chemistry, University of Copenhagen, Universitetsparken 5, DK-2100, Copenhagen Ø, Denmark.
  • Matassini C; Department of Chemistry "U. Schiff", University of Florence, via della Lastruccia 3-13, 50019, Sesto F.no (FI), Italy.
  • Goti A; Department of Chemistry "U. Schiff", University of Florence, via della Lastruccia 3-13, 50019, Sesto F.no (FI), Italy.
  • Morrone A; Laboratory of Molecular Genetics of Neurometabolic Diseases, Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Firenze, Italy.
  • Paoli P; Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Viale Pieraccini 24, 50139, Firenze, Italy.
  • Cardona F; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Morgagni 50, 50134, Firenze, Italy.
  • Cacciarini M; Department of Chemistry "U. Schiff", University of Florence, via della Lastruccia 3-13, 50019, Sesto F.no (FI), Italy.
Chem Biodivers ; 21(8): e202401104, 2024 Aug.
Article en En | 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glucosilceramidasa / Mutación Límite: Humans Idioma: En Revista: Chem Biodivers Asunto de la revista: BIOQUIMICA / QUIMICA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glucosilceramidasa / Mutación Límite: Humans Idioma: En Revista: Chem Biodivers Asunto de la revista: BIOQUIMICA / QUIMICA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza