Results 11 to 20 of about 13,156 (213)

NPC1 in human white adipose tissue and obesity [PDF]

BMC Endocrine Disorders, 2013
Background Genetic studies have implicated the NPC1 gene (Niemann Pick type C1) in susceptibility to obesity. Methods To assess the potential function of NPC1 in obesity, we determined its expression in abdominal white adipose tissue (WAT) in relation to
Bambace Clara, Dahlman Ingrid, Arner Peter, Kulyté Agné   +3 more
doaj   +3 more sources

An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor

Cell Communication and Signaling, 2023
Viruses communicate with their hosts through interactions with proteins, lipids, and carbohydrate moieties on the plasma membrane (PM), often resulting in viral absorption via receptor-mediated endocytosis.
Irfan Ahmad, Seyede Narges Fatemi, Mohammad Ghaheri, Ali Rezvani, Dorsa Azizi Khezri, Mohammad Natami, Saman Yasamineh, Omid Gholizadeh, Zahra Bahmanyar   +8 more
doaj   +3 more sources

Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation Profiles. [PDF]

J Inherit Metab Dis
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that affects approximately 1 in 100 000 live births. It is primarily caused by mutations in the NPC1 gene, which disrupts intracellular cholesterol transport and leads to lipid accumulation in late endosomes and lysosomes.
Mahmoud SA, Mergani A, von Köckritz-Blickwede M, Naim HY.   +3 more
europepmc   +2 more sources

A Cross-Disease Microglial Transcriptional Program Characterizes Neurodegeneration and Highlights SPP1 as a Biomarker. [PDF]

Glia
Distinct microglial subpopulations are depicted, highlighting variations in gene expression and functional roles in response to specific disease conditions and the complexity of microglial activation and differentiation in neurodegeneration. ABSTRACT Microglial cells are key players in maintaining brain homeostasis and responding to pathological ...
Palma A, Stefanelli R, Trenta F, Projetti C, Massa G, Canterini S, Fiorenza MT.   +6 more
europepmc   +2 more sources

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C. [PDF]

J Extracell Biol
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare neurodegenerative disease primarily caused by mutations in the NPC1 gene, which is associated with cholesterol trafficking impairment, and disruption of endolysosomal processing and extracellular vesicles (EVs).
Hawthorne SCB, Sandau US, McFarland TJ, Berry-Kravis E, Saugstad JA.   +4 more
europepmc   +2 more sources

Mechanistic Basis of Cholesterol Binding and Transfer in NPC2: Insights From Molecular Dynamics Simulations. [PDF]

Chembiochem
A mechanistic basis is proposed for how variation in protein sequence perturbs cholesterol handling in Niemann–Pick type C2 (NPC2) protein. A relatively rigid hydrophobic core stabilizes cholesterol binding, a flexible but coordinated rim enables controlled access and productive transfer of cholesterol, and coordinated loop motions modulate pocket ...
Patel S, Elghobashi-Meinhardt N.
europepmc   +2 more sources

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

Disease Models & Mechanisms, 2020
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids.
Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan   +14 more
doaj   +1 more source

Hepatic and neuronal phenotype of NPC1−/− mice [PDF]

Heliyon, 2019
Niemann-Pick type C disease (NPC) is a fatal autosomal recessive disorder characterized by a defect in the intracellular transport of lipoproteins leading to the accumulation of lipids in diverse tissues. A visceral and neuronal phenotype mimicking human NPC1 disease has been described in NPC1 mutant mice.
Estibaliz Santiago-Mujica, Stefanie Flunkert, Roland Rabl, Joerg Neddens, Tina Loeffler, Birgit Hutter-Paier   +5 more
openaire   +3 more sources

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease. [PDF]

PLoS ONE, 2016
Niemann-Pick type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 gene. NPC is characterised by storage of multiple lipids in the late endosomal/lysosomal compartment, resulting in cellular ...
Elena-Raluca Nicoli, Nada Al Eisa, Celine V M Cluzeau, Christopher A Wassif, James Gray, Kathryn R Burkert, David A Smith, Lauren Morris, Stephanie M Cologna, Cody J Peer, Tristan M Sissung, Constantin-Daniel Uscatu, William D Figg, William J Pavan, Charles H Vite, Forbes D Porter, Frances M Platt   +16 more
doaj   +1 more source

Astrocyte‐only Npc1 reduces neuronal cholesterol and triples life span of Npc1^–/– mice [PDF]

Journal of Neuroscience Research, 2008
AbstractNiemann‐Pick type C (NPC) disease is an autosomal recessive, lethal neurodegenerative disorder. Although neurodegeneration of Purkinje cells in the mouse model (Npc1–/–) is thought to be autonomous, the basis of neuronal death in other regions of the brain remains elusive.
Min, Zhang, Diana, Strnatka, Carolyn, Donohue, Janice L, Hallows, Inez, Vincent, Robert P, Erickson   +5 more
openaire   +2 more sources