The Extending Spectrum of NPC1-Related Human Disorders: From Niemann-Pick C1 Disease to Obesity
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The Niemann-Pick type C1 (NPC1) protein regulates the transport of cholesterol and fatty acids from late endosomes/lysosomes and has a central role in maintaining lipid homeostasis. NPC1 loss-of-function mutations in humans cause NPC1 disease, a rare autosomal... ...
