PMID:11125141

Citation	Naureckiene, S, Sleat, DE, Lackland, H, Fensom, A, Vanier, MT, Wattiaux, R, Jadot, M and Lobel, P (2000) Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290:2298-301
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.
Links	PubMed Online version:10.1126/science.290.5500.2298
Keywords	Amino Acid Sequence; Animals; Biological Transport; CHO Cells; Carrier Proteins; Cell Membrane/metabolism; Cells, Cultured; Cholesterol/metabolism; Cricetinae; Culture Media, Conditioned; Fibroblasts/metabolism; Glycoproteins/chemistry; Glycoproteins/genetics; Glycoproteins/metabolism; Glycoproteins/pharmacology; Humans; Lysosomes/metabolism; Molecular Sequence Data; Mutation; Niemann-Pick Diseases/genetics; Niemann-Pick Diseases/metabolism; Rats; Receptor, IGF Type 2/metabolism; Recombinant Proteins/metabolism; Recombinant Proteins/pharmacology; Transfection
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