Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene

See allHide authors and affiliations

Science  11 Jul 1997:
Vol. 277, Issue 5323, pp. 232-235
DOI: 10.1126/science.277.5323.232

You are currently viewing the abstract.

View Full Text

Log in to view the full text

Log in through your institution

Log in through your institution


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.

  • * To whom correspondence should be addressed. E-mail: bpavan{at}

View Full Text

Stay Connected to Science