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

  title={Consequences of NPC1 and NPC2 loss of function in mammalian neurons.},
  author={Steven U Walkley and Kinuko Suzuki},
  journal={Biochimica et biophysica acta},
  volume={1685 1-3},
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
95 Citations
112 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 95 extracted citations


Publications referenced by this paper.
Showing 1-10 of 112 references

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


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

Similar Papers

Loading similar papers…