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Cited by 1,293

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

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

Carstea, Eugene D., Morris, Jill A., Coleman, Katherine G., Loftus, Stacie K., Zhang, Dana, Cummings, Christiano, Gu, Jessie, Rosenfeld, Melissa A., Pavan, William J., Krizman, David B., Nagle, James, Polymeropoulos, Mihail H., Sturley, Stephen L., Ioannou, Yiannis A., Higgins, Maureen E., Comly, Marcella, Cooney, Adele, Brown, Anthony, Kaneski, Christine R., Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Neufeld, Edward B., Chang, Ta-Yuan, Liscum, Laura, Strauss, Jerome F., Ohno, Kousaku, Zeigler, Marsha, Carmi, Rivka, Sokol, Jacob, Markie, David, O'Neill, Raymond R., van Diggelen, O. P., Elleder, Milan, Patterson, Marc C., Brady, Roscoe O., Vanier, Marie T., Pentchev, Peter G., Tagle, Danilo A.·1997·Science
DOI 10.1126/science.277.5323.228
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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.

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Crossref · 10.1126/science.277.5323.228

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1 of 1 references verified0 citation errors · 0 not checkable

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  • NPC1L1 is a homolog of the Niemann-Pick C1 (NPC1) protein that mediates cholesterol export from lysosomes following endocytosis of LDL cholesterol.

    “NPC1L1 is a homolog of the Niemann-Pick C1 (NPC1) protein that mediates cholesterol export from lysosomes following endocytosis of LDL cholesterol (39).”

    From Aster-dependent nonvesicular transport facilitates dietary cholesterol uptake (2023) · cites this paper as [39]

Citations

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Metadata

Authors
Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M. A., Pavan, W. J., Krizman, D. B., Nagle, J., Polymeropoulos, M. H., Sturley, S. L., Ioannou, Y. A., Higgins, M. E., Comly, M., Cooney, A., Brown, A., Kaneski, C. R., Blanchette-Mackie, E. J., Dwyer, N. K., Neufeld, E. B., Chang, T.-Y., Liscum, L., Strauss, J. F., Ohno, K., Zeigler, M., Carmi, R., Sokol, J., Markie, D., O'Neill, R. R., van Diggelen, O. P., Elleder, M., Patterson, M. C., Brady, R. O., Vanier, M. T., Pentchev, P. G., & Tagle, D. A.
Affiliations
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.
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
1997-07-11
Volume
277
Issue
5323
Pages
228-231
ISSN
  • 0036-8075
  • 1095-9203
DOI
10.1126/science.277.5323.228
Cited by
1,293
References
1
Language
en

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