期刊
JOURNAL OF NEUROCHEMISTRY
卷 116, 期 5, 页码 789-795出版社
WILEY
DOI: 10.1111/j.1471-4159.2010.06976.x
关键词
acid sphingomyelinase; cyclodextrin; bis(monoacylglycerol)phosphate; lysosomal acid lipase; lysosomal storage organelle; miglustat
资金
- Ara Parseghian Medical Research Foundation
- NIH [R37-DK27083]
Cholesterol is an important lipid of mammalian cells. Its unique physicochemical properties modulate membrane behavior and it serves as the precursor for steroid hormones, oxysterols and vitamin D. Cholesterol is effluxed from the late endosomes/lysosomes via the concerted action of at least two distinct proteins: Niemann-Pick C (NPC) 1 and NPC2. Mutations in these two proteins manifest as NPC disease - a very rare, usually fatal, autosomal, recessive, neurovisceral, lysosomal storage disorder. In this review, we discuss the possible mechanisms of action for NPC1 and NPC2 in mediating cholesterol efflux, as well as the different therapeutic approaches being pursued for the treatment of this lipid storage disorder.
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