Iminosugar-Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers.
Chem Biodivers
; 21(8): e202401104, 2024 Aug.
Article
em 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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glucosilceramidase
/
Mutação
Limite:
Humans
Idioma:
En
Revista:
Chem Biodivers
Assunto da revista:
BIOQUIMICA
/
QUIMICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Itália