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

@article{Pacheco2008ThePO,
  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},
  year={2008},
  volume={10},
  pages={e26}
}
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
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