Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis-Reference-Cited by-同舟云学术

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Published:1997-07-11 Issue:5323 Volume:277 Page:228-231
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Carstea Eugene D.¹²³⁴⁵,Morris Jill A.¹²³⁴⁵,Coleman Katherine G.¹²³⁴⁵,Loftus Stacie K.¹²³⁴⁵,Zhang Dana¹²³⁴⁵,Cummings Christiano¹²³⁴⁵,Gu Jessie¹²³⁴⁵,Rosenfeld Melissa A.¹²³⁴⁵,Pavan William J.¹²³⁴⁵,Krizman David B.¹²³⁴⁵,Nagle James¹²³⁴⁵,Polymeropoulos Mihail H.¹²³⁴⁵,Sturley Stephen L.¹²³⁴⁵,Ioannou Yiannis A.¹²³⁴⁵,Higgins Maureen E.¹²³⁴⁵,Comly Marcella¹²³⁴⁵,Cooney Adele¹²³⁴⁵,Brown Anthony¹²³⁴⁵,Kaneski Christine R.¹²³⁴⁵,Blanchette-Mackie E. Joan¹²³⁴⁵,Dwyer Nancy K.¹²³⁴⁵,Neufeld Edward B.¹²³⁴⁵,Chang Ta-Yuan¹²³⁴⁵,Liscum Laura¹²³⁴⁵,Strauss Jerome F.¹²³⁴⁵,Ohno Kousaku¹²³⁴⁵,Zeigler Marsha¹²³⁴⁵,Carmi Rivka¹²³⁴⁵,Sokol Jacob¹²³⁴⁵,Markie David¹²³⁴⁵,O'Neill Raymond R.¹²³⁴⁵,van Diggelen O. P.¹²³⁴⁵,Elleder Milan¹²³⁴⁵,Patterson Marc C.¹²³⁴⁵,Brady Roscoe O.¹²³⁴⁵,Vanier Marie T.¹²³⁴⁵,Pentchev Peter G.¹²³⁴⁵,Tagle Danilo A.¹²³⁴⁵

Affiliation:

1. E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.

2. S. K. Loftus, J. Gu, M. A. Rosenfeld, W. J. Pavan, M. H. Polymeropoulos, D. A. Tagle, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

3. D. B. Krizman, National Cancer Institute, NIH, Bethesda, MD 20892, USA.

4. S. L. Sturley, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

5. Y. A. Ioannou and M. E. Higgins, Mount Sinai School of Medicine, New York, NY 10029, USA.

Abstract

Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional cloning methods, a gene ( NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278–amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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