The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene
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.
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Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
Cited by
Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
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., et al. (1997) · Science · doi:10.1126/science.277.5323.228 · Cited by 1,293
Self-citationA proteolytic pathway that controls the cholesterol content of membranes, cells, and blood
Brown, M. S., & Goldstein, J. L. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.20.11041 · Cited by 1,134
Dietschy, J. M., & Turley, S. D. (2004) · Journal of Lipid Research · doi:10.1194/jlr.r400004-jlr200 · Cited by 1,095
Cholesterol metabolism in the brain
Dietschy, J. M., & Turley, S. D. (2001) · Current Opinion in Lipidology · doi:10.1097/00041433-200104000-00003 · Cited by 906
Retrotransposons regulate host genes in mouse oocytes and preimplantation embryos
Peaston, A. E., Evsikov, A. V., Graber, J. H., de Vries, W. N., Holbrook, A. E., Solter, D., & Knowles, B. B. (2004) · Developmental Cell · doi:10.1016/j.devcel.2004.09.004 · Cited by 710
Metadata
- Authors
- Loftus, S. K., Morris, J. A., Carstea, E. D., Gu, J. Z., Cummings, C., Brown, A., Ellison, J., Ohno, K., Rosenfeld, M. A., Tagle, D. A., Pentchev, P. G., & Pavan, W. J.
- Venue
- Science
- Published
- 1997-07-11
- Volume
- 277
- Issue
- 5323
- Pages
- 232-235
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2168016965
- Cited by
- 801
- References
- 1
- FWCI
- 23.15
- Type
- journal article
- Language
- en
- Open access
- closed
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- Loftus, S. K., Morris, J. A., Carstea, E. D., Gu, J. Z., Cummings, C., Brown, A., Ellison, J., Ohno, K., Rosenfeld, M. A., Tagle, D. A., Pentchev, P. G., & Pavan, W. J. (1997). Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene. Science. https://doi.org/10.1126/science.277.5323.232
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