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      Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

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          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.

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          Author and article information

          Journal
          Science
          Science (New York, N.Y.)
          American Association for the Advancement of Science (AAAS)
          0036-8075
          0036-8075
          Jul 11 1997
          : 277
          : 5323
          Affiliations
          [1 ] National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
          Article
          10.1126/science.277.5323.228
          9211849
          4337c3bb-6772-4619-b5c8-3d7257e989b4
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