Article
Quantitative comparison of the efficacy of various compounds in lowering intracellular cholesterol levels in Niemann-Pick type C fibroblasts.
PloS one - 1 Jan 2012
Wehrmann Zachary T, Hulett Tyler W, Huegel Kara L, Vaughan Kevin T, Wiest Olaf, Helquist Paul, Goodson Holly
Abstract excerpt
Niemann-Pick Type C disease (NPC) is a lethal, autosomal recessive disorder caused by mutations in the NPC1 and NPC2 cholesterol transport proteins. NPC's hallmark symptoms include an accumulation of unesterified cholesterol and other lipids in the late endosomal and lysosomal cellular compartments, causing progressive neurodegeneration and death. Although the age of onset may vary in those affected, NPC most...
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