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
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N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
Rohini Sidhu,Yawo Mondjinou,Mingxing Qian,Haowei Song,Arun Kumar,Xinying Hong,Fong-Fu Hsu,Dennis J. Dietzen,Nicole M. Yanjanin,Forbes D. Porter,Elizabeth Berry-Kravis,Charles H. Vite,Michael H. Gelb,Jean E. Schaffer,Daniel S. Ory,Xuntian Jiang +15 more
TL;DR: PPCS is the most abundant species among N-acyl-O-phosphocholineserines (APCS), a class of lipids that have not been previously detected in biological samples, and all APCS species with acyl groups ranging from C14 to C24 were elevated in NPC1 plasma.
Journal ArticleDOI
Niemann-Pick type C2 protein mediates hepatic stellate cells activation by regulating free cholesterol accumulation
Yuh Ching Twu,Tzong Shyuan Lee,Yun-Lian Lin,Shih Ming Hsu,Yuan Hsi Wang,Chia Yu Liao,Chung Kwe Wang,Yu Chih Liang,Yi Jen Liao +8 more
TL;DR: It is demonstrated that NPC2 plays an important role in HSCs activation by regulating the accumulation of free cholesterol and may represent a new treatment strategy for liver fibrosis.
Journal ArticleDOI
Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung
TL;DR: The Niemann-Pick C pathway functions to control cholesterol accumulation in lamellar bodies of type II pneumocytes and, thereby, may play a role in the regulation of surfactant cholesterol content.
Reference EntryDOI
Lipid and Lipoprotein Metabolism
Clive R. Pullinger,John P. Kane +1 more
TL;DR: Recent advances in molecular cell biology and molecular medicine, involving studies of these genes and their products, have significantly increased the authors' understanding of lipoprotein metabolism and atherosclerotic heart disease.
Journal ArticleDOI
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.
Judith Blanz,Friederike Zunke,Sandra Markmann,Markus Damme,Thomas Braulke,Paul Saftig,Michael Schwake +6 more
TL;DR: M6P‐independent lysosomal sorting of LIMP‐2 and subsequently GC in vivo is proved and cathepsin Z, a known GlcNAc‐1‐phosphotransferase substrate, but not LIMp‐2, could be precipitated with M6P•specific antibodies.
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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