NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.

@article{Frolov2003NPC1AN,
  title={NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.},
  author={Andrey N. Frolov and Sarah E Zielinski and Jan R. Crowley and Nicole Dudley-Rucker and Jean E Schaffer and Daniel S Ory},
  journal={The Journal of biological chemistry},
  year={2003},
  volume={278 28},
  pages={25517-25}
}
Mutations in the Niemann-Pick disease genes cause lysosomal cholesterol accumulation and impaired low density lipoprotein (LDL) cholesterol esterification. These findings have been attributed to a block in cholesterol movement from lysosomes to the site of the sterol regulatory machinery. In this study we show that Niemann-Pick type C1 (NPC1) and Niemann-Pick type C2 (NPC2) mutants have increased cellular cholesterol, yet they are unable to suppress LDL receptor activity and cholesterol… CONTINUE READING