Pentchev P G, Comly M E, Kruth H S, Tokoro T, Butler J, Sokol J, Filling-Katz M, Quirk J M, Marshall D C, Patel S
FASEB J. 1987 Jul;1(1):40-5. doi: 10.1096/fasebj.1.1.3609608.
Incubation of mutant Niemann-Pick C fibroblasts with low-density lipoprotein (LDL) resulted in excessive internalization of lipoprotein and extensive cellular over-accumulation of unesterified cholesterol. The uptake of LDL by the mutant cells appeared to occur through the classic LDL receptor pathway and internalized lipoprotein was processed in lysosomes. Lipoprotein uptake into mutant cells was associated with delays in the initiation of established cellular cholesterol homeostatic responses. Subcellular fractionation of mutant Niemann-Pick C fibroblasts accumulating LDL-cholesterol showed excess unesterified sterol to be localized in the light lysosome-light membrane region of a Percoll gradient, and revealed that cholesterol storage was associated with a specific alteration in the normal profiles of lysosomal marker enzymes.
将突变型尼曼-皮克C型成纤维细胞与低密度脂蛋白（LDL）一起孵育，会导致脂蛋白过度内化以及未酯化胆固醇在细胞内大量过度积累。突变细胞对LDL的摄取似乎是通过经典的LDL受体途径发生的，内化的脂蛋白在溶酶体中进行处理。脂蛋白被摄取到突变细胞中与已确立的细胞胆固醇稳态反应启动延迟有关。对积累LDL胆固醇的突变型尼曼-皮克C型成纤维细胞进行亚细胞分级分离显示，过量的未酯化固醇位于Percoll梯度的轻溶酶体-轻膜区域，并表明胆固醇储存与溶酶体标记酶的正常分布的特定改变有关。
