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. 2000 Dec 22;290(5500):2298-301.
doi: 10.1126/science.290.5500.2298.

Identification of HE1 as the second gene of Niemann-Pick C disease

S Naureckiene  1 , D E Sleat, H Lackland, A Fensom, M T Vanier, R Wattiaux, M Jadot, P Lobel
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Identification of HE1 as the second gene of Niemann-Pick C disease

S Naureckiene et al. Science. .

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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