Department of Biology, McMaster University, Hamilton, Ontario, Canada.
J Med Genet. 2012 Sep;49(9):591-7. doi: 10.1136/jmedgenet-2012-101070. Epub 2012 Aug 14.
A viable treatment for lysosomal storage disease has been very difficult to attain. One option is pharmacological inhibition of synthetic pathways to reduce substrate accumulations. Miglustat N-butyldeoxynojirimycin (NBDNJ), an inhibitor of glucosylceramide synthase, has shown much promise in clinical trials for the treatment of Type I Gaucher disease. The molecular events invoked by NBDNJ in cell culture and in animal models have not been so definitive. This review discusses the biochemical and molecular impact of NBDNJ as it relates to its potential as a therapeutic drug.
溶酶体贮积症的有效治疗方法一直难以实现。一种选择是通过药理学抑制合成途径来减少底物的积累。N-丁基脱氧野尻霉素（NBDNJ）是一种葡萄糖神经酰胺合酶抑制剂，在治疗 I 型戈谢病的临床试验中显示出很大的前景。NBDNJ 在细胞培养和动物模型中引发的分子事件还不是那么明确。本文综述了 NBDNJ 的生化和分子影响，以及它作为一种治疗药物的潜力。
