Niemann-Pick Disease Type C : Unraveling the Mechanisms Behind a Lysosomal Storage Disease and Their Connection to Neurodegeneration

Niemann-Pick Type C (NPC) is a fatal lysosomal storage disease caused by mutations to the NPC1 and NPC2 genes. NPC is characterized by an intracellular accumulation of cholesterol, however the relationship between this and the resulting neurodegeneration is unclear.