| Literature DB >> 9211849 |
E D Carstea1, J A Morris, K G Coleman, S K Loftus, D Zhang, C Cummings, J Gu, M A Rosenfeld, W J Pavan, D B Krizman, J Nagle, M H Polymeropoulos, S L Sturley, Y A Ioannou, M E Higgins, M Comly, A Cooney, A Brown, C R Kaneski, E J Blanchette-Mackie, N K Dwyer, E B Neufeld, T Y Chang, L Liscum, J F Strauss, K Ohno, M Zeigler, R Carmi, J Sokol, D Markie, R R O'Neill, O P van Diggelen, M Elleder, M C Patterson, R O Brady, M T Vanier, P G Pentchev, D A Tagle.
Abstract
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.Entities:
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Year: 1997 PMID： 9211849 DOI： 10.1126/science.277.5323.228
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728