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

K. Loftus, Stacie; A. Morris, Jill; D. Carstea, Eugene; Z. Gu, Jessie; Cummings, Christiano; Brown, Anthony; Ellison, Jane; Ohno, Kousaku; A. Rosenfeld, Melissa; A. Tagle, Danilo; G. Pentchev, Peter; J. Pavan, William

doi:10.1126/science.277.5323.232

Public

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

Shared by NobleBlocks on Jul 11, 1997 • 12:00 AM UTC

Authors:

Stacie K. Loftus

Jill A. Morris

Eugene D. Carstea

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 signalin...

Discussions