N-Butyldeoxynojirimycin-d9 (NB-DNJ-d9) is intended for use as an internal standard for the quantification of NB-DNJ by GC- or LC-MS. NB-DNJ is an iminosugar that inhibits UDP-glucose ceramide glucosyltransferase and β-glucosidase 2 (IC50s = 32 and 81 μM, respectively, for the rat recombinant enzymes).1 It also increases the activity of wild-type acid β-glucosidase, as well as the S364R, N370S, V15M, or M123T mutants, in COS-7 cells expressing the human enzymes when used at a concentration of 10 µM.2 NB-DNJ also inhibits HIV-1 and HIV-2 infection of peripheral blood mononuclear cells (PBMCs; IC50s = 282 and 211 μM, respectively).3 Formulations containing NB-DNJ have been used in the treatment of Gaucher disease, an inborn error of metabolism characterized as a lysosomal storage disorder resulting from substantial deficiency of β-glucosidase.
1.Lee, J.C., Francis, S., Dutta, D., et al.Synthesis and evaluation of eight- and four-membered iminosugar analogues as inhibitors of testicular ceramide-specific glucosyltransferase, testicular β-glucosidase 2, and other glycosidasesJ. Org. Chem.77(7)3082-3098(2012) 2.Alfonso, P., PampÍn, S., Estrada, J., et al.Miglustat (NB-DNJ) works as a chaperone for mutated acid β-glucosidase in cells transfected with several Gaucher disease mutationsBlood Cells Mol. Dis.35(2)268-276(2005) 3.Pollock, S., Dwek, R.A., Burton, D.R., et al.N-Butyldeoxynojirimycin is a broadly effective anti-HIV therapy significantly enhanced by targeted liposome deliveryAIDS22(15)1961-1969(2008)