Cholesterol accumulation and liver cell death in mice with Niemann‐Pick type C disease
Eduardo P. Beltroy, James A. Richardson, Jay D. Horton, Stephen D. Turley, John M. Dietschy – 20 September 2005 – Niemann‐Pick type C (NPC) disease develops as a result of mutations in the NPC1 gene that encodes a protein involved in the net movement of unesterified cholesterol from the late endosomal/lysosomal compartment to the metabolically active pool of sterol in the cytosol of virtually every cell in the body.