title: Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease.
abstract: New human β-glucocerebrosidase (GCase) ligands with rigid 1,6-anhydro-β-L-idonojirimycin cores have been designed with the aid of molecular modeling. Efficient pharmacological chaperones for the L444P (trafficking-incompetent) mutant GCase enzyme associated with type 2 and 3 Gaucher disease (GD) were identified.
authors.affiliation: Biomedical Network Research Center on Rare Diseases (CIBERER), ISCIII, Alvaro de Bazán 10 bajo, 46010 Valencia, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Alfonso
authors.forename: Vanesa
authors.initials: V
authors.lastname: Andreu
authors.forename: Almudena
authors.initials: A
authors.lastname: Pino-Angeles
authors.forename: Aurelio A
authors.initials: AA
authors.lastname: Moya-García
authors.forename: M Isabel
authors.initials: MI
authors.lastname: García-Moreno
authors.forename: José C
authors.initials: JC
authors.lastname: Rodríguez-Rey
authors.forename: Francisca
authors.initials: F
authors.lastname: Sánchez-Jiménez
authors.forename: Miguel
authors.initials: M
authors.lastname: Pocoví
authors.forename: Carmen
authors.initials: C
authors.lastname: Ortiz Mellet
authors.forename: Jose M
authors.initials: JM
authors.lastname: García Fernández
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
mesh_terms: D000818:Animals; D019556:COS Cells; D002460:Cell Line; D002522:Chlorocebus aethiops; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D050112:Imino Pyranoses / Q000737:chemistry* / Q000494:pharmacology*; D008024:Ligands; D062105:Molecular Docking Simulation; D009154:Mutation
chemical_list: D050112:Imino Pyranoses; D008024:Ligands; D005962:Glucosylceramidase