Department of Chemistry, York Structural Biology Laboratory , University of York , Heslington, York YO10 5DD , United Kingdom.
J Am Chem Soc. 2019 Mar 13;141(10):4214-4218. doi: 10.1021/jacs.9b00056. Epub 2019 Mar 4.
Gaucher disease is caused by inherited deficiency in glucocerebrosidase (GBA, a retaining β-glucosidase), and deficiency in GBA constitutes the largest known genetic risk factor for Parkinson's disease. In the past, animal models of Gaucher disease have been generated by treatment with the mechanism-based GBA inhibitors, conduritol B epoxide (CBE), and cyclophellitol. Both compounds, however, also target other retaining glycosidases, rendering generation and interpretation of such chemical knockout models complicated. Here we demonstrate that cyclophellitol derivatives carrying a bulky hydrophobic substituent at C8 are potent and selective GBA inhibitors and that an unambiguous Gaucher animal model can be readily generated by treatment of zebrafish with these.
戈谢病是由葡糖脑苷脂酶(GBA,一种保留β-葡萄糖苷酶)遗传性缺乏引起的,而 GBA 的缺乏构成了帕金森病最大的已知遗传风险因素。过去,通过使用基于机制的 GBA 抑制剂——表柯因 B 环氧化物(CBE)和环磷己醇——来生成戈谢病的动物模型。然而,这两种化合物也靶向其他保留糖苷酶,使得此类化学敲除模型的生成和解释变得复杂。在这里,我们证明了在 C8 位带有大体积疏水取代基的环磷己醇衍生物是有效的、选择性的 GBA 抑制剂,并且通过用这些化合物处理斑马鱼,可以很容易地生成明确的戈谢病动物模型。