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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study [PDF]
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Hepatic Niemann–Pick C1-like 1
Current Opinion in Lipidology, 2011The discovery of Niemann-Pick C1-like 1 (NPC1L1) and ezetimibe, a drug that lowers intestinal cholesterol absorption, has contributed to the recognition of the intestine as an important organ in whole-body cholesterol homeostasis. Unfortunately, the majority of the studies on NPC1L1 have been conducted in rodent models, which, in contrast to humans, do
Camilla, Pramfalk +2 more
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Mutation analysis of feline Niemann–Pick C1 disease
Molecular Genetics and Metabolism, 2003Niemann-Pick C (NPC) disease is an autosomal recessive neurovisceral lysosomal storage disorder that results in defective intracellular transport of cholesterol. The major form of human NPC (NPC1) has been mapped to chromosome 18, the NPC1 gene (NPC1) has been sequenced and several mutations have been identified in NPC1 patients.
Kyra L, Somers +5 more
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Niemann–Pick C1-Like 1 and cholesterol uptake
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2012Niemann-Pick C1-Like 1 (NPC1L1) is a polytopic transmembrane protein responsible for dietary cholesterol and biliary cholesterol absorption. Consistent with its functions, NPC1L1 distributes on the brush border membrane of enterocytes and the canalicular membrane of hepatocytes in humans. As the molecular target of ezetimibe, a hypocholesterolemic drug,
Li-Juan, Wang, Bao-Liang, Song
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The Niemann–Pick C1 protein in feline fibroblasts
Molecular Genetics and Metabolism, 2002Niemann-Pick type C (NPC) disease is a rare inherited metabolic disorder characterized by hepatosplenomegaly, progressive neurodegeneration, and storage of lipids such as cholesterol and glycosphingolipids in most tissues. The current study was conducted to characterize the Niemann-Pick C1 (NPC1) protein in feline fibroblasts.
William S, Garver +5 more
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Niemann-Pick C1-Like 1 inhibitors for reducing cholesterol absorption
European Journal of Medicinal Chemistry, 2022Cholesterol is an important component of cell membrane. However, elevated level of serum cholesterol is a key risk factor for heart disease. Niemann-Pick C1-Like 1 (NPC1L1) is the crucial target involving in cholesterol cellar uptake. Ezetimibe is the first, and only, NPC1L1 inhibitor approved for the treatment of hypercholesterolemia through ...
Renshuai Zhang +6 more
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Niemann-Pick C1-Like 1 Mediates α-Tocopherol Transport
Molecular Pharmacology, 2008Dietary lipids and fat-soluble micronutrients are solubilized in mixed micelles and absorbed in the small intestine. Based on an assumption that cholesterol and other fat-soluble molecules share a number of transport mechanisms and the fact that Niemann-Pick C1-like 1 (NPC1L1) is critical for intestinal cholesterol absorption, we hypothesized that some
Kazuya, Narushima +3 more
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Transmembrane Molecular Pump Activity of Niemann-Pick C1 Protein
Science, 2000Niemann-Pick C1 (NPC1) disease is characterized by cholesterol accumulation in lysosomes and aberrant feedback regulation of cellular cholesterol homeostasis. We provide evidence that the NPC1 protein has homology with the resistance-nodulation-division (RND) family of prokaryotic permeases and may normally function as a transmembrane ...
J P, Davies, F W, Chen, Y A, Ioannou
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Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2012
Niemann-Pick disease type C (NPC) is caused by mutations leading to loss of function of NPC1 or NPC2 proteins, resulting in accumulation of unesterified cholesterol in late endosomes and lysosomes. We previously reported that expression of the ATP-binding cassette transporter A1 (ABCA1) is impaired in human NPC1(-/-) fibroblasts, resulting in reduced ...
Emmanuel, Boadu +2 more
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Niemann-Pick disease type C (NPC) is caused by mutations leading to loss of function of NPC1 or NPC2 proteins, resulting in accumulation of unesterified cholesterol in late endosomes and lysosomes. We previously reported that expression of the ATP-binding cassette transporter A1 (ABCA1) is impaired in human NPC1(-/-) fibroblasts, resulting in reduced ...
Emmanuel, Boadu +2 more
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2014
Niemann-Pick type C is a neurodegenerative disease, due to lipid storage with intracellular lipid trafficking, due to a deficiency of sphingomyelinase. Although the lesion occurs throughout the central nervous system, certain regions are more susceptible.
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Niemann-Pick type C is a neurodegenerative disease, due to lipid storage with intracellular lipid trafficking, due to a deficiency of sphingomyelinase. Although the lesion occurs throughout the central nervous system, certain regions are more susceptible.
openaire +1 more source