Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.

@article{Alfonso2005MiglustatW,
  title={Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.},
  author={Pilar Alfonso and Sandra Pamp{\'i}n and Jorge L. Estrada and Jos{\'e} Carlos Rodr{\'i}guez-Rey and Pilar Giraldo and Javier Sancho and Miguel Pocovi},
  journal={Blood cells, molecules & diseases},
  year={2005},
  volume={35 2},
  pages={268-76}
}
Gaucher disease (GD) is a disorder of glycosphinglipid metabolism caused by deficiency of lysosomal acid beta-glucosidase (GC), resulting in progressive deposition of glucosylceramide in macrophages. The glucose analogue, N-butyl-deoxynojirimycin (NB-DNJ, Miglustat), is an inhibitor of the ceramide-specific glucosyltransferase (CSG) which catalyzes the first step of glycosphingolipids biosynthesis and is currently approved for the oral treatment of type 1 GD. Using site-directed mutagenesis, we… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 27 extracted citations

Similar Papers

Loading similar papers…