Journal
TRAFFIC
Volume 11, Issue 4, Pages 419-428Publisher
WILEY
DOI: 10.1111/j.1600-0854.2010.01032.x
Keywords
NPC1; NPC2; sphingosine; sphingolipid; cholesterol; lysosomal calcium; lysosomal storage disease
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Funding
- SPARKS
- Newlife
- Action Medical Research [1766] Funding Source: researchfish
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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.
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