Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport.

@article{Vruchte2004AccumulationOG,
  title={Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport.},
  author={Danielle Taylor te Vruchte and Emyr Lloyd-Evans and Robert Jan Veldman and David Neville and Raymond A. Dwek and Frances M Platt and Wim J. van Blitterswijk and Dan John Sillence},
  journal={The Journal of biological chemistry},
  year={2004},
  volume={279 25},
  pages={26167-75}
}
Glycosphingolipids are endocytosed and targeted to the Golgi apparatus but are mistargeted to lysosomes in sphingolipid storage disorders. Substrate reduction therapy utilizes imino sugars to inhibit glucosylceramide synthase and potentially abrogate the effects of storage. Niemann-Pick type C (NPC) disease is a disorder of intracellular transport where glycosphingolipids (GSLs) and cholesterol accumulate in endosomal compartments. The mechanisms of altered intracellular trafficking are not… CONTINUE READING