Consequences of NPC1 and NPC2 loss of function in mammalian neurons.

@article{Walkley2004ConsequencesON,
  title={Consequences of NPC1 and NPC2 loss of function in mammalian neurons.},
  author={Steven U Walkley and Kinuko Suzuki},
  journal={Biochimica et biophysica acta},
  year={2004},
  volume={1685 1-3},
  pages={48-62}
}
Genetic deficiency of NPC1 or NPC2 results in a devastating cholesterol-glycosphingolipidosis of brain and other organs known as Niemann-Pick type C (NPC) disease. While NPC1 is a transmembrane protein believed involved in retroendocytic shuttling of substrate(s) to the Golgi and possibly elsewhere in cells as part of an essential recycling/homeostatic control mechanism, NPC2 is a soluble lysosomal protein known to bind cholesterol. The precise role(s) of NPC1 and NPC2 in endosomal-lysosomal… CONTINUE READING
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Pathology of Niemann–Pick type C: studies of murine mutant

  • Y. Higashi, P. G. Pentchev, S. Murayama, K. Suzuki
  • in: F. Ikuta (Ed.), Neuropathology in Brain…
  • 1991
Highly Influential
6 Excerpts

C

  • Y. Trembath
  • Rosenberg, J.F. Ervin, et al., Lewy body…
  • 2004
1 Excerpt

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