| First Author | Naureckiene S | Year | 2000 |
| Journal | Science | Volume | 290 |
| Issue | 5500 | Pages | 2298-301 |
| PubMed ID | 11125141 | Mgi Jnum | J:127190 |
| Mgi Id | MGI:3763310 | Doi | 10.1126/science.290.5500.2298 |
| Citation | Naureckiene S, et al. (2000) Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290(5500):2298-301 |
| abstractText | 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. |
