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Niemann-Pick disease type C is a complex lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes that is characterized at the cellular level by the storage of multiple lipids, defective lysosomal calcium homeostasis and unique trafficking defects. We review the potential role of each of the individual storage lipids in initiating the pathogenic cascade and propose a model of NPC1 and NPC2 function based on the current knowledge.

Original publication

DOI

10.1111/j.1600-0854.2010.01032.x

Type

Journal article

Journal

Traffic

Publication Date

04/2010

Volume

11

Pages

419 - 428

Keywords

Animals, Carrier Proteins, Cholesterol, Glycoproteins, Glycosphingolipids, Humans, Lipid Metabolism, Lysosomes, Membrane Glycoproteins, Mice, Niemann-Pick Disease, Type C, Sphingosine