期刊
TRAFFIC
卷 11, 期 4, 页码 419-428出版社
WILEY
DOI: 10.1111/j.1600-0854.2010.01032.x
关键词
NPC1; NPC2; sphingosine; sphingolipid; cholesterol; lysosomal calcium; lysosomal storage disease
类别
资金
- SPARKS
- Newlife
- Action Medical Research [1766] Funding Source: researchfish
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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