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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Secondary impairment of intracellular cholesterol transport in cells with niemann-pick disease type c
TL;DR: It is suggested that secondary dysfunctions of A�CA1 and A�CG1 may cause impairment of cholesterol efflux in the peripheral cells, leading to low plasma levels of HDL cholesterol in NPC.
Journal ArticleDOI
Niemann-Pick Type C Proteins Are Required for Sterol Transport and Appressorium-Mediated Plant Penetration of Colletotrichum orbiculare
TL;DR: In this paper , a Niemann-Pick type C2 homolog (CoNpc2) was identified as a physical interaction factor with CoTem1 and showed that CoNpc1 and CoNPC2 play a critical role in intracellular sterol transport and that appropriate sterol distribution is required for membrane integrity and membrane curvature with actin assembly, leading to penetration peg emergence and appressorial cone formation.
Sterol-binding proteins in late endosomes : Regulation of endosome motility and lipid metabolism
TL;DR: This data indicates that BODIPY-Cholesterol as a Tool to Visualize Cholesterol in Cells and Tissues and ORP1L Function in Endosomal Trafficking and Function ...........................................
Journal ArticleDOI
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Tarekegn Geberhiwot,Melissa P. Wasserstein,Subadra Wanninayake,Shaun Bolton,Andrea Dardis,Anna Lehman,Olivier Lidove,Charlotte Dawson,Roberto Giugliani,Jackie Imrie,Justin Hopkin,Jim Green,Shyam Madathil,Eugen Mengel,Fatih Süheyl Ezgü,Magali Pettazzoni,Barbara Sjouke,Carla E. M. Hollak,Marie T. Vanier,Margaret M. McGovern,Edward H. Schuchman +20 more
TL;DR: In this article , the authors have developed clinical guidelines that define standard of care for patients with acid sphingomyelinase deficiency (ASMD), which is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene.
Probing lipid domains in model membranes and in mammalian cells
TL;DR: In this paper, the authors propose a solution to solve the problem of concurrence of the 2.7.7 dB.0 dB.1 dB.2 dB.5 dB.
References
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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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