| First Author | Peake KB | Year | 2010 |
| Journal | FEBS Lett | Volume | 584 |
| Issue | 13 | Pages | 2731-9 |
| PubMed ID | 20416299 | Mgi Jnum | J:161331 |
| Mgi Id | MGI:4457998 | Doi | 10.1016/j.febslet.2010.04.047 |
| Citation | Peake KB, et al. (2010) Defective cholesterol trafficking in Niemann-Pick C-deficient cells. FEBS Lett 584(13):2731-9 |
| abstractText | Pathways of intracellular cholesterol trafficking are poorly understood at the molecular level. Mutations in Niemann-Pick C (NPC) proteins, NPC1 and NPC2, however, have led to insights into the mechanism by which endocytosed cholesterol is exported from late endosomes/lysosomes (LE/L). Mutations in NPC1, a multi-spanning membrane protein of LE/L, or mutations in NPC2, a soluble luminal protein of LE/L, cause the neurodegenerative disorder NPC disease. This review focuses on data supporting a model in which movement of cholesterol out of LE/L is mediated by the sequential action of the two NPC proteins. We also discuss potential therapies for NPC disease, including evidence that treatment of NPC-deficient mice with the cholesterol-binding compound, cyclodextrin, markedly attenuates neurodegeneration, and increases life-span, of NPC1-deficient mice. |
