Vance Jean E
Canadian Institutes for Health Research Group on the Molecular and Cell Biology of Lipids, Department of Medicine, 332 HMRC, University of Alberta, Edmonton, Alta., Canada T6G 2S2.
FEBS Lett. 2006 Oct 9;580(23):5518-24. doi: 10.1016/j.febslet.2006.06.008. Epub 2006 Jun 15.
Niemann-Pick C (NPC) disease is a progressive neurological disorder in which cholesterol, gangliosides and bis-monoacylglycerol phosphate accumulate in late endosomes/lysosomes. This disease is caused by mutations in either the NPC1 or NPC2 gene. NPC1 and NPC2 are involved in egress of lipids, particularly cholesterol, from late endosomes/lysosomes but the precise functions of these proteins are not clear. An important question regarding the function of NPC proteins is: why do mutations in these ubiquitously expressed proteins have such dire consequences in the brain? This review summarizes the roles of NPC proteins in lipid homeostasis particularly in the central nervous system.
尼曼-皮克C型（NPC）病是一种进行性神经疾病，其中胆固醇、神经节苷脂和双单酰甘油磷酸在晚期内体/溶酶体中蓄积。该疾病由NPC1或NPC2基因突变引起。NPC1和NPC2参与脂质，尤其是胆固醇从晚期内体/溶酶体的流出，但这些蛋白质的确切功能尚不清楚。关于NPC蛋白功能的一个重要问题是：为什么这些普遍表达的蛋白质发生突变会在大脑中产生如此严重的后果？这篇综述总结了NPC蛋白在脂质稳态中的作用，尤其是在中枢神经系统中的作用。
