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26 April 2024

» pubmed » pmid9211849

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Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
E D Carstea ; 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 ;
Date:	11 Jul 1997
Journal:	Science, 277 (5323), 228-31
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.
Source:	PubMed, pmid9211849
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