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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Journal ArticleDOI
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
Bénédicte Sudrié-Arnaud,Sarah Snanoudj,Ivana Dabaj,Hélène Dranguet,Lenaig Abily-Donval,Axel Lebas,Myriam Vezain,Bénédicte Héron,Isabelle Marie,Marc Duval-Arnould,Stéphane Marret,Abdellah Tebani,Soumeya Bekri +12 more
TL;DR: In this article, a capture-based next generation sequencing (NGS) panel was developed to detect single nucleotide variants (SNVs), small insertions and deletions, and copy number variants (CNVs) in 51 genes related to Lysosomal disorders.
Dissertation
Estudios de biomarcadores y de posibles terapias en la deficiencia del transportador de creatina y en la enfermedad de niemann-pick tipo c
TL;DR: In this article, the eficación de the tratamiento with PCr-Mg-CPLX, CrOBzl and nanoparticulas de oro (Au-HC-NPs) was evaluated.
Dissertation
Mechanisms of V600EBRAF-induced tumour development
TL;DR: In vivo, expression of endogenous BRaf in mice induced senescence and autophagy in lung adenomas and this prevented lung tumour progression, and the role of Npc2 in tumour suppression was investigated and it was found that this protein induced upregulation of the p53/p21 pathway and triggered autophileagy in a paracrine/autocrine manner.
Journal ArticleDOI
Two Distinct Lysosomal Targeting Strategies Afford Trojan Horse Antibodies With Pan-Filovirus Activity
Ariel S. Wirchnianski,Anna Z. Wec,Elisabeth K. Nyakatura,Andrew S. Herbert,Megan M. Slough,Ana I. Kuehne,Eva Mittler,Rohit K. Jangra,Jonathan Teruya,John M. Dye,Jonathan R. Lai,Kartik Chandran +11 more
TL;DR: In this article, a Trojan horse bsAbs targeting the endo/lysosomal GP:NPC1 interface with pan-filovirus breadth by exploiting the conserved and widely expressed host cation-independent mannose-6-phosphate receptor for intracellular delivery.
Journal ArticleDOI
Biogenesis and transport of membrane domains-potential implications in brain pathologies.
TL;DR: The role of sphingolipids- and cholesterol-rich micro- and nano-membrane domains (MD) is discussed and their pivotal role in lipid-protein clustering processes, vesicle biogenesis and membrane fusion is highlighted.
References
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Book
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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