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. 1997 Jul 11;277(5323):232-5.
doi: 10.1126/science.277.5323.232.

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene

S K Loftus  1 , J A Morris, E D Carstea, J Z Gu, C Cummings, A Brown, J Ellison, K Ohno, M A Rosenfeld, D A Tagle, P G Pentchev, W J Pavan
Affiliations

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene

S K Loftus et al. Science. .

Abstract

An integrated human-mouse positional candidate approach was used to identify the gene responsible for the phenotypes observed in a mouse model of Niemann-Pick type C (NP-C) disease. The predicted murine NPC1 protein has sequence homology to the putative transmembrane domains of the Hedgehog signaling molecule Patched, to the cholesterol-sensing regions of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase and SREBP cleavage-activating protein (SCAP), and to the NPC1 orthologs identified in human, the nematode Caenorhabditis elegans, and the yeast Saccharomyces cerevisiae. The mouse model may provide an important resource for studying the role of NPC1 in cholesterol homeostasis and neurodegeneration and for assessing the efficacy of new drugs for NP-C disease.

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