Journal ArticleDOI
Identification of HE1 as the Second Gene of Niemann-Pick C Disease
Saule Naureckiene,David E. Sleat,David E. Sleat,Henry Lackland,Anthony H. Fensom,Marie T. Vanier,Robert Wattiaux,Michel Jadot,Peter Lobel,Peter Lobel +9 more
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TLDR
Treatment of NP-C2 fibroblasts with exogenous recombinant HE1 protein ameliorated lysosomal accumulation of low density lipoprotein-derived cholesterol.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.read more
Citations
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New proteins from old diseases provide novel insights in cell biology.
TL;DR: Given the advancements of the past year, it is apparent that some of the most significant insights are yet to come, as the authors delineate the last remaining and most enigmatic of these diseases.
Investigation of the atherogenic potential of different human macrophage phenotypes
TL;DR: This chapter discusses the global health problem of heart disease and the role of macrophages in atherosclerosis, as well as other aspects of cholesterol trafficking derived from LDL, and its role in immunity.
Book ChapterDOI
Quantitative Measurement of Cholesterol in Cell Populations Using Flow Cytometry and Fluorescent Perfringolysin O
TL;DR: A method to measure cholesterol using a fluorescently labeled, mutant form of Perfringolysin O, a soluble protein toxin that binds cholesterol specifically is described.
Journal ArticleDOI
Identification of NPC2 protein as interaction molecule with C2 domain of human Nedd4L
Naomi Araki,Tomoaki Ishigami,Hisako Ushio,Shintaro Minegishi,Masanari Umemura,Yohei Miyagi,Ichiro Aoki,Hiroko Morinaga,Koichi Tamura,Yoshiyuki Toya,Kazuaki Uchino,Satoshi Umemura +11 more
TL;DR: Evidence is provided suggesting that transcriptional regulation and activation of NPC2 protein depends on sodium intake, and NPC2 might regulate sodium reabsorption in the terminal nephron by interacting with ENaC-Nedd4L system.
Journal ArticleDOI
In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system.
TL;DR: A yeast two-hybrid screen using full length human DedolPP synthase gene as a bait to find some proteins specifically interacting with the enzyme identified Niemann-Pick Type C2 protein (NPC2), indicating the possible physiological interaction between NPC2 and Dedol PP synthase proteins in human.
References
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The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
Journal ArticleDOI
Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue
TL;DR: The results are shown to favour the ferryl ion structure, or an isomer of this structure, for the higher oxidation state, and theHigher oxidation state may provisionally be named ferrylmyoglobin.
Journal ArticleDOI
Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis
David E. Sleat,Robert J. Donnelly,Henry Lackland,Henry Lackland,Chang Gong Liu,Istvan Sohar,Istvan Sohar,Raju K. Pullarkat,Peter Lobel,Peter Lobel +9 more
TL;DR: In this paper, the mannose 6-phosphate modification of newly synthesized lysosomal enzymes was used as an affinity marker, and a single protein was identified that is absent in LINCL.
Journal ArticleDOI
Niemann–Pick C1 Is a Late Endosome-Resident Protein That Transiently Associates with Lysosomes and the Trans-Golgi Network
TL;DR: Characterizing the subcellular location of the NPC1 protein suggests that U18666A may inhibit the retrograde transport of NPC1 from lysosomes to late endosomes for subsequent transfer to the trans-Golgi network.
Journal Article
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.
TL;DR: In this article, the authors conducted a study on skin fibroblast cultures from 32 unrelated Niemann-Pick C patients covering the range of known clinical and biochemical phenotypes.
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