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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Mitochondrial cholesterol: Metabolism and impact on redox biology and disease
Leire Goicoechea,Laura Conde de la Rosa,Sandra Torres,Carmen García-Ruiz,José C. Fernández-Checa +4 more
TL;DR: In this article , the authors summarized the metabolism and regulation of mitochondrial cholesterol and its potential impact on liver and neurodegenerative diseases, including metabolic liver disease and liver cancer, as well as lysosomal disorders (i.e. Niemann-Pick type C disease).
Dissertation
Investigations into the genetic causes of liver disease using molecular genetic technologies
McKay Bounford,Kirsten Elizabeth +1 more
TL;DR: This study uncovered 27 novel sequence variants, including 22 in UK patients, expanding the known mutation spectrum of these disorders, including 134 novel NPC mutations and 4 novel CD mutations.
Journal ArticleDOI
Spectrum of Movement Disorders in Niemann-Pick Disease Type C
Rashmi Devaraj,Rohan Mahale,Dodmalur Malikarjuna Sindhu,Albert Stezin,Nitish Kamble,Vikram V Holla,Manjunath Netravathi,Ravi Yadav,P. K. Patel +8 more
TL;DR: Cerebellar ataxia and dystonia are the most common movement disorder in NPC and vertical supranuclear gaze palsy along with the movement disorders should lead to clinical suspicion of NPC.
Dissertation
Understanding The Regulation Of Adipogenesis And Adipocyte Metabolism In Obesity
TL;DR: This dissertation aims to demonstrate the power of simple, scalable, scalable and scalable data analysis to provide real-time feedback on the quality and quantity of individual servings that are suitable for human consumption.
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
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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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