Abstract:Niemann-Pick type C (NPC) is an autosomal recessive disease that affects children at a young age with hepatosplenomegaly and neurodegeneration that ultimately leads to mortality. The disease is due to a mutation in the NPC1 protein that leads to the intracellular accumulation of cholesterol within the cell due to a disruption in unesterified cholesterol trafficking. The specifics of how mutations in NPC1 cells inhibit the cholesterol movement pathway are still yet to be explained, but previous research suggest… Show more
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.