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- Title
Identification of HE1 as the second gene of Niemann-Pick C disease.
- Authors
Naureckiene, S; Sleat, D E; Lackland, H; Fensom, A; Vanier, M T; Wattiaux, R; Jadot, M; Lobel, P
- 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.
- Publication
Science (New York, N.Y.), 2000, Vol 290, Issue 5500, p2298
- ISSN
0036-8075
- Publication type
Journal Article
- DOI
10.1126/science.290.5500.2298