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Article

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

Science (New York, N.Y.) - 11 Jul 1997

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 9211850
DOI: 10.1126/science.277.5323.232

Genes

NPC1
SCAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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