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.

1. P. G. Pentchev M. T. Vanier K. Suzuki M. C. Patterson in The Metabolic and Molecular Basis of Inherited Diseases C. R. Scriver A. L. Beaudet W. S. Sly D. Valle Eds. (McGraw-Hill Philadelphia PA 1995) pp. 2625–2639.

2. Neufeld E. B., et al., J. Biol. Chem. 271, 21604 (1996);

3. Blanchette-Mackie E. J., et al., Proc. Natl. Acad. Sci. U.S.A. 85, 8022 (1988);

4. Coxey R. A., Pentchev P. G., Campbell G., Blanchette-Mackie E. J., J. Lipid. Res. 34, 1165 (1993).

5. Y. Higashi P. G. Pentchev S. Murayama K. Suzuki in Neurology in Brain Research F. Ikuta Ed. (Elsevier Amsterdam 1991) pp. 85–102.

Cited by 734 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Reversal of pathologic changes in fibroblasts from Niemann-Pick type C disease patients by inhibition of bromodomain and extraterminal proteins;2023-12-20

2. Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis;Animal Genetics;2023-12-12

3. The Npc2 mouse signifies pathological changes comparable to human Niemann-Pick type C2 disease;Molecular and Cellular Neuroscience;2023-09

4. Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine;npj Genomic Medicine;2023-08-11

5. Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann–Pick disease type C treatment;Clinical and Translational Medicine;2023-08