Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

@article{LloydEvans2008NiemannPickDT,
  title={Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium},
  author={Emyr Lloyd-Evans and Anthony J. Morgan and Xingxuan He and David A Smith and Elena Elliot-Smith and Daniel Sillence and Grant C. Churchill and Edward H. Schuchman and Antony Galione and Frances M. Platt},
  journal={Nature Medicine},
  year={2008},
  volume={14},
  pages={1247-1255}
}
Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by mutations in the acidic compartment (which we define as the late endosome and the lysosome) protein, NPC1. The function of NPC1 is unknown, but when it is dysfunctional, sphingosine, glycosphingolipids, sphingomyelin and cholesterol accumulate. We have found that NPC1-mutant cells have a large reduction in the acidic compartment calcium store compared to wild-type cells. Chelating luminal endocytic… 

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