| First Author | Carstea ED | Year | 1997 |
| Journal | Science | Volume | 277 |
| Issue | 5323 | Pages | 228-31 |
| PubMed ID | 9211849 | Mgi Jnum | J:41464 |
| Mgi Id | MGI:893942 | Doi | 10.1126/science.277.5323.228 |
| Citation | Carstea ED, et al. (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis [see comments]. Science 277(5323):228-31 |
| abstractText | Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)-derived cholesterol. By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278-amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase. |
