The pathogenesis of Niemann-Pick type C disease: a role for autophagy?

  title={The pathogenesis of Niemann-Pick type C disease: a role for autophagy?},
  author={Chris D Pacheco and Andrew P. Lieberman},
  journal={Expert reviews in molecular medicine},
Niemann-Pick type C disease (NPC) is a sphingolipid-storage disorder that results from inherited deficiencies of intracellular lipid-trafficking proteins, and is characterised by an accumulation of cholesterol and glycosphingolipids in late endosomes and lysosomes. Patients with this disorder develop progressive neurological impairment that often begins in childhood, is ultimately fatal and is currently untreatable. How impaired lipid trafficking leads to neurodegeneration is largely unknown… CONTINUE READING
31 Citations
103 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 31 extracted citations


Publications referenced by this paper.
Showing 1-10 of 103 references

Ontogenesis and regulation of cholesterolmetabolisminthecentralnervoussystem of the mouse

  • G Quan
  • Brain Res Dev Brain Res
  • 2003
Highly Influential
3 Excerpts

Similar Papers

Loading similar papers…