Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene-Reference-Cited by-同舟云学术

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

Published:1997-07-11 Issue:5323 Volume:277 Page:232-235
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Loftus Stacie K.¹²³⁴⁵,Morris Jill A.¹²³⁴⁵,Carstea Eugene D.¹²³⁴⁵,Gu Jessie Z.¹²³⁴⁵,Cummings Christiano¹²³⁴⁵,Brown Anthony¹²³⁴⁵,Ellison Jane¹²³⁴⁵,Ohno Kousaku¹²³⁴⁵,Rosenfeld Melissa A.¹²³⁴⁵,Tagle Danilo A.¹²³⁴⁵,Pentchev Peter G.¹²³⁴⁵,Pavan William J.¹²³⁴⁵

Affiliation:

1. S. K. Loftus, J. Ellison, W. J. Pavan, Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD 20892, USA.

2. J. A. Morris, Laboratory of Gene Transfer, National Human Genome Research Institute, and Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.

3. E. D. Carstea, C. Cummings, A. Brown, P. G. Pentchev, Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.

4. J. Z. Gu, M. A. Rosenfeld, D. A. Tagle, Laboratory of Gene Transfer, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

5. K. Ohno, Department of Neurobiology, School of Life Sciences, Tottori University Faculty of Medicine, Yonago, 683, Japan.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference56 articles.

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