Results 91 to 100 of about 13,156 (213)

Pneumococcal Immunization Reduces Neurological and Hepatic Symptoms in a Mouse Model for Niemann-Pick Type C1 Disease

Frontiers in Immunology, 2019
Niemann-Pick type C1 (NPC1) disease is caused by a deleterious mutation in the Npc1 gene, causing lysosomal accumulation of unesterified cholesterol and sphingolipids.
Tom Houben, Inês Magro dos Reis, Yvonne Oligschlaeger, Hellen Steinbusch, Marion J. J. Gijbels, Tim Hendrikx, Tim Hendrikx, Christoph J. Binder, Christoph J. Binder, David Cassiman, David Cassiman, Marit Westerterp, Jos Prickaerts, Ronit Shiri-Sverdlov   +13 more
doaj   +1 more source

Reovirus infection is regulated by NPC1 and endosomal cholesterol homeostasis.

PLoS Pathogens, 2022
Cholesterol homeostasis is required for the replication of many viruses, including Ebola virus, hepatitis C virus, and human immunodeficiency virus-1. Niemann-Pick C1 (NPC1) is an endosomal-lysosomal membrane protein involved in cholesterol trafficking ...
Paula Ortega-Gonzalez, Gwen Taylor, Rohit K Jangra, Raquel Tenorio, Isabel Fernandez de Castro, Bernardo A Mainou, Robert C Orchard, Craig B Wilen, Pamela H Brigleb, Jorna Sojati, Kartik Chandran, Martin Sachse, Cristina Risco, Terence S Dermody   +13 more
doaj   +1 more source

Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

Movement Disorders, EarlyView.
Robert Jech, Petra Havránková, Eugenia Tsoma, Lukáš Kunc, Tomáš Krajča, Ján Necpál, Olga Ulmanová, Aleksandra Tomic, Ivana Dzinovic, Irena Rektorová, Marek Baláž, Tereza Serranová, Stanislava Jaselska, Maria Giertlova, Kristina Kulcsarova, Alexandra Lackova, Denisa Harvanova, Miriam Ostrozovicova, Vladimir Han, GenDy Collaborators, Matej Škorvánek, Michael Zech   +21 more
wiley   +1 more source

ADAR1 Controls Macrophage Scavenging and Lipid‐Buffering Programs in Metabolic Tissues

European Journal of Immunology, Volume 56, Issue 4, April 2026.
ADAR1 expression increase during monocyte‐to‐macrophage differentiation via an alternative transcription start site. Isoform‐specific ADAR1 activity governs key macrophage functions, including efferocytosis, endocytosis, lipid metabolism, and proliferation.
Achilleas Fardellas, Emelie Barreby, Madara Brice, Sebastian Nock, Jules Russick, Ana Vankova, Charlotte Edberg, Ida Robertsen, Jens K. Hertel, Per Stål, Gunnar Mellgren, Cecilia Karlsson, Jøran S. Hjelmesaeth, Hannes Hagström, Erik Näslund, Volker M. Lauschke, Johan Fernø, Ping Chen, Cecilia Morgantini, Myriam Aouadi, Niklas K. Björkström   +20 more
wiley   +1 more source

Characterization of Fluorescent Sterol Binding to Purified Human NPC1 [PDF]

Journal of Biological Chemistry, 2009
Mutations in the NPC1 gene cause Niemann-Pick type C disease, which appears to result from a defect in intracellular cholesterol trafficking. NPC1 is a member of the resistance-nodulation-cell division (RND) permease superfamily and contains a sterol-sensing domain, yet its cellular function and the identity of its substrates remain unknown.
Ronghua, Liu, Peihua, Lu, Joseph W K, Chu, Frances J, Sharom   +3 more
openaire   +2 more sources

Reduced VLDL clearance in Apoe−/−Npc1−/− mice is associated with increased Pcsk9 and Idol expression and decreased hepatic LDL-receptor levels

Journal of Lipid Research, 2010
Niemann-Pick type C1 (NPC1) promotes the transport of LDL receptor (LDL-R)-derived cholesterol from late endosomes/lysosomes to other cellular compartments.
Minako Ishibashi, David Masson, Marit Westerterp, Nan Wang, Scott Sayers, Rong Li, Carrie L. Welch, Alan R. Tall   +7 more
doaj   +1 more source

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease [PDF]

, 2016
This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid)
Camuzeaux, S, Clayton, PT, Gissen, P, Iida, T, Maekawa, M, Mano, N, Mazzacuva, F, Mills, K, Mills, P, Nicoli, E-R, Platt, F, Porter, FD, te Vruchte, D, Wassif, C   +13 more
core   +1 more source

Role of STARD4 and NPC1 in intracellular sterol transport [PDF]

Biochemistry and Cell Biology, 2016
Cholesterol plays an important role in determining the biophysical properties of membranes in mammalian cells, and the concentration of cholesterol in membranes is tightly regulated. Cholesterol moves among membrane organelles by a combination of vesicular and nonvesicular transport pathways, but the details of these transport pathways are not well ...
Maxfield, Frederick R, Iaea, David B, Pipalia, Nina H   +2 more
openaire   +2 more sources

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review [PDF]

, 2016
Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due to the wide range in age of onset
Bauer, P, Burlina, A, Coll, MJ, Gissen, P, Goizet, C, Hendriksz, CJ, Kolb, SA, Latour, P, Marquardt, T, Vanier, MT, Welford, RWD   +10 more
core   +2 more sources

A Cluster of Three snoRNAs Including Jouvence Required in the Gut Determines Lifespan and Confers Neuroprotection Through Metabolic Parameters

Aging Cell, Volume 25, Issue 4, April 2026.
The disruption of a cluster of three snoRNAs in the epithelium of the gut deregulates the lipid and sterol (including the cholesterol) homeostasis. At the whole‐organism level, this chronic deregulation, all along life, decreases lifespan and leads to neurodegenerative lesions in old flies.
Sara Al Issa, Théo Gauvrit, Patricia Daira, Nathalie Bernoud‐Hubac, Jean‐René Martin   +4 more
wiley   +1 more source