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Traffic. 2010 Apr;11(4):419-28. doi: 10.1111/j.1600-0854.2010.01032.x. Epub 2010 Jan 6.

Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.

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Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.


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.

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