Aminocyclitols as pharmacological chaperones for glucocerebrosidase, a defective enzyme in Gaucher disease.
Egido-Gabás
Meritxell
M
Research Unit on Bioactive Molecules, Departament de Química Orgànica Biològica, Institut d'Investigacions Químiques i Ambientals de Barcelona (C.S.I.C), Jordi Girona 18-26, 08034 Barcelona, Spain.
Canals
Daniel
D
Casas
Josefina
J
Llebaria
Amadeu
A
Delgado
Antonio
A
D054812:Cyclitols / Q000138:chemical synthesis / Q000494:pharmacology* / Q000627:therapeutic use*; D005776:Gaucher Disease / Q000188:drug therapy / Q000201:enzymology*; D005962:Glucosylceramidase / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D018832:Molecular Chaperones; D009154:Mutation; D011489:Protein Denaturation
D054812:Cyclitols; D018832:Molecular Chaperones; D005962:Glucosylceramidase