Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors

  title={Treatment of Niemann–Pick Type C Disease by Histone Deacetylase Inhibitors},
  author={Paul Helquist and Frederick R Maxfield and Norbert L. Wiech and Olaf G. Wiest},
Niemann–Pick type C disease (NPC) is a devastating, recessive, inherited disorder that causes accumulation of cholesterol and other lipids in late endosomes and lysosomes. Mutations in 2 genes, NPC1 and NPC2, are responsible for the disease, which affects about 1 in 120,000 live births. About 95 % of patients have mutations in NPC1, a large polytopic membrane protein that is normally found in late endosomes. More than 200 missense mutations in NPC1 have been found in NPC patients. The disease… CONTINUE READING
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