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Showing 1 to 8 of 8 for “"Niemann-Pick Type C"”.
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Evaluating the Mechanisms of 2-Hydroxypropyl-β-Cyclodextrin and Liver X Receptor Agonists as Potential Therapies for Niemann-Pick Type C Disease
… In some rare disease states, such as in Niemann-Pick Type C, cholesterol balance is lost leading to detrimental effects. In Niemann-Pick Type C, mutations in either of the cholesterol trafficking proteins, NPC1 or NPC2, lead to the entrapment of unesterified cholesterol within the …
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SYNTHESIS, CHARACTERIZATION, IN VITRO EVALUTION, AND PRECLINICAL PROFILING OF β-CYCLODEXTRIN POLYROTAXANE FAMILIES FOR USE AS POTENTIAL NIEMANN-PICK TYPE C THERAPEUTICS
Niemann-Pick Disease Type C (NPC) is a rare, autosomal recessive genetic disorder featuring a loss of proteins responsible for unesterified cholesterol (UC) trafficking through the late endosomes/lysosomes (LE/LY) of every cell of the body. Disruption of this pathway leads to abnormal accumulation …
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A machine learning approach to spike sorting to reveal neuronal signalling defects in models of neurodegeneration
… diseases such as Alzheimer’s, Parkinson’s, and Niemann-Pick type C disease. The current understanding of the molecular mechanisms underlying these disorders is limited. Pathological protein aggregation is believed to impact neuronal signalling by disrupting ion channel activity and …
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Biochemical Characterization of Niemann-Pick C: A Disease of Cholesterol Transport
… from observations in cells from patients with Niemann-Pick Type C (NPC) disease. These individuals accumulate large amounts of cholesterol throughout the body caused by mutations in either one of two genes encoding the lysosomal proteins NPC1 and NPC2. Unlike the membrane protein NPC1, evidence …
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Characterization of a Novel NPC1I1061T Knock-in Mouse Model of Niemann-Pick Type C1 Disease
<p>Niemann-Pick Type C (NPC) disease is a fatal pediatric cholesterol storage disease that is caused by mutations in either the <italic>npc1</italic> or <italic>npc2</italic> genes. Loss of function of either gene results in toxic storage of free cholesterol in the lysosomes due to a cholesterol …
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Cationic amphiphilic drug-induced autophagosome accumulation is due to autophagosome sequestration within vimentin intermediate filament networks resulting in prolonged autophagosome half-life
… lysosomal storage diseases,</p> <p>including Niemann Pick Type C (NPC). The relationship between</p> <p>autophagosome accumulation and lysosomal non-esterified cholesterol is</p> <p>unclear. Exposure of murine hepatoma 1c1c7 cultures to the cationic</p> <p>amphiphilic drugs (CADs) U18666A, …
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Sterol Binding to Niemann-Pick Type C1 Disease Protein (NPC1) - Implications for its Function in Cholesterol Transport
… in animal cells remains obscure. Studies on Niemann-Pick type C disease (NPC) defined the requirement of at least two proteins involved in the transport of lipoprotein-derived cholesterol from lysosomes. Both proteins are located in the lysosomes and mutations in either NPC1, a membrane bound …
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Exosomes act as molecular vehicles contributing to cellular cholesterol efflux
… konnte für eine Reihe von verschiedenen Zelltypen gezeigt werden und dient einer Vielzahl von Funktionen. Dies umfasst unter anderem den Transport von DNA, Proteinen und Lipiden für die interzelluläre Kommunikation, die Präsentation von Antigenen und die Sekretion von ungenutztem Material. …