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

By S. Naureckiene, D. Sleat, H. Lackland, A. Fensom, M. Vanier, R. Wattiaux, M. Jadot, P. Lobel. Science, 2000

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Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium (2008, neutral): “We performed open-field analysis as described previousl”
Niemann-Pick disease type C (2010, background): “Major advances have been the description of two genetic complementation groups [13,14] and the subsequent isolation of the two underlying genes [15,16].”
Cholesterol metabolism and homeostasis in the brain (2015, neutral): “, 1997) and NPC2 is an intralumenal component that binds cholesterol (Naureckiene et al., 2000; Soccio and Breslow, 2004).”
How proteins move lipids and lipids move proteins (2001, background): “The NPC2 protein, HE1, is a cholesterol-binding protein that localizes to the lysosomal lume”
Structure of N-terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol (2009, background): “The other gene encodes NPC2, a small soluble protein of 132 amino acids that resides in endosomes and lysosomes and is also secreted from the cell (Naureckiene et al., 2000).”