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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Analysis of the Host Transcriptome from Demyelinating Spinal Cord of Murine Coronavirus-Infected Mice
TL;DR: The complexity of the host antiviral response, which accompanyMHV-induced demyelination, is highlighted and further supports previous findings that MHV- induced demYelination is immune-mediated.
Journal ArticleDOI
Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds
Wei-Chia Tseng,Hannah E. Loeb,Wuhong Pei,Chon-Hwa Tsai-Morris,Lisha Xu,Céline Cluzeau,Christopher A. Wassif,Benjamin Feldman,Shawn M. Burgess,William J. Pavan,Forbes D. Porter +10 more
TL;DR: A zebrafish genetic model of Niemann-Pick disease type C1 is suitable for performing in vivo screening of candidate therapeutic compounds by examining LysoTracker staining intensity in neuromasts.
Journal ArticleDOI
HE1/NPC2 status in human reproductive tract and ejaculated spermatozoa: consequence of vasectomy.
TL;DR: Western blot analyses showed that many vasovasostomized men are characterized by high HE1/NPC2 levels in spermatozoa when compared with fertile donors, which may reflect epididymal sequelae occurring when the vas deferens is obstructed.
Journal ArticleDOI
Combinatorial evolution of high-affinity peptides that bind to the Thomsen-Friedenreich carcinoma antigen.
Linda A. Landon,Elena N. Peletskaya,Vladislav V. Glinsky,Natalia G. Karasseva,Thomas P. Quinn,Susan L. Deutscher,Susan L. Deutscher +6 more
TL;DR: The new peptides were more soluble and exhibited up to fivefold increase in affinity and were potent inhibitors of homotypic aggregation, which will have expanded applications in basic studies of the TF antigen and particular utility as clinical carcinoma-targeting agents.
Journal ArticleDOI
Altered vitamin E status in Niemann-Pick type C disease
Lynn Ulatowski,Robert S. Parker,Cristin Davidson,Nicole M. Yanjanin,Thomas J. Kelley,Deborah A. Corey,Jeffrey Atkinson,Forbes D. Porter,Hiroyuki Arai,Steven U. Walkley,Danny Manor +10 more
TL;DR: Observations indicate that functionality of NPC1/2 proteins is necessary for proper bioavailability of vitamin E and that the NPC pathology might involve tissue-specific perturbations ofitamin E status.
References
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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.
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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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