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Identification of HE1 as the Second Gene of Niemann-Pick C Disease
Abstract
Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of cholesterol from lysosomes. Here we show that the disease is caused by a deficiency in HE1, a ubiquitously expressed lysosomal protein identified previously as a cholesterol-binding protein. HE1 was undetectable in fibroblasts from NP-C2 patients but present in fibroblasts from unaffected controls and NP-C1 patients. Mutations in the HE1 gene, which maps to chromosome 14q24.3, were found in NP-C2 patients but not in controls. Treatment of NP-C2 fibroblasts with exogenous recombinant HE1 protein ameliorated lysosomal accumulation of low density lipoprotein–derived cholesterol.
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Goldstein, J. L., & Brown, M. S. (2009) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.108.179564 · Cited by 1,344
Vanier, M. T. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-16 · Cited by 1,222
Self-citationCholesterol metabolism and homeostasis in the brain
Zhang, J., & Liu, Q. (2015) · Protein & Cell · doi:10.1007/s13238-014-0131-3 · Cited by 686
Kwon, H. J., Abi-Mosleh, L., Wang, M. L., Deisenhofer, J., Goldstein, J. L., Brown, M. S., & Infante, R. E. (2009) · Cell · doi:10.1016/j.cell.2009.03.049 · Cited by 636
Metadata
- Authors
- Naureckiene, S., Sleat, D. E., Lackland, H., Fensom, A., Vanier, M. T., Wattiaux, R., Jadot, M., & Lobel, P.
- Venue
- Science
- Published
- 2000-12-22
- Volume
- 290
- Issue
- 5500
- Pages
- 2298-2301
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2053203314
- Cited by
- 824
- References
- 0
- FWCI
- 17.01
- Type
- journal article
- Language
- en
- Open access
- closed
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- Naureckiene, S., Sleat, D. E., Lackland, H., Fensom, A., Vanier, M. T., Wattiaux, R., Jadot, M., & Lobel, P. (2000). Identification of HE1 as the Second Gene of Niemann-Pick C Disease. Science. https://doi.org/10.1126/science.290.5500.2298
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