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Quoted phrase not found in phrase index: "Unesterified cholesterol accumulation in cultured fibroblasts"
Page 1
New agents and approaches to treatment in Niemann-Pick type C disease.
Pérez-Poyato MS, Pineda M. Pérez-Poyato MS, et al. Curr Pharm Biotechnol. 2011 Jun;12(6):897-901. doi: 10.2174/138920111795542697. Curr Pharm Biotechnol. 2011. PMID: 21235443 Review.
Niemann-Pick disease type C is an autosomal recessive disorder caused by mutations in either one of the two genes, NPC1 or NPC2, which encode proteins involved in the regulation of normal transport and/or processing of free cholesterol. Several types of lipids including fr …
Niemann-Pick disease type C is an autosomal recessive disorder caused by mutations in either one of the two genes, NPC1 or NPC2, which encod …
Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.
Vo ML, Levy T, Lakhani S, Wang C, Ross ME. Vo ML, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1906. doi: 10.1002/mgg3.1906. Epub 2022 Feb 22. Mol Genet Genomic Med. 2022. PMID: 35192242 Free PMC article.
BACKGROUND: Adult-onset Nieman-Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unesterified cholesterol resulting in severe disability and death. ...WES showed the siblings were both compound heterozygous for two rar …
BACKGROUND: Adult-onset Nieman-Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unesteri …
Niemann-Pick disease type C: an update.
Vanier MT, Pentchev P, Rodriguez-Lafrasse C, Rousson R. Vanier MT, et al. J Inherit Metab Dis. 1991;14(4):580-95. doi: 10.1007/BF01797928. J Inherit Metab Dis. 1991. PMID: 1749223 Review.
Although the primary lesion is still unknown, studies conducted over the past six years have led to a breakthrough by showing that this disorder is characterized by unique abnormalities of intracellular translocation of exogenous cholesterol. In cultured fibrobla …
Although the primary lesion is still unknown, studies conducted over the past six years have led to a breakthrough by showing that this diso …
Fbxo2 mediates clearance of damaged lysosomes and modifies neurodegeneration in the Niemann-Pick C brain.
Liu EA, Schultz ML, Mochida C, Chung C, Paulson HL, Lieberman AP. Liu EA, et al. JCI Insight. 2020 Oct 15;5(20):e136676. doi: 10.1172/jci.insight.136676. JCI Insight. 2020. PMID: 32931479 Free PMC article.
Here, we examined LMP and lysophagy in Niemann-Pick type C (NPC) disease, an autosomal recessive disorder characterized by the accumulation of unesterified cholesterol within late endosomes and lysosomes, leading to neurodegeneration and early death. We demon …
Here, we examined LMP and lysophagy in Niemann-Pick type C (NPC) disease, an autosomal recessive disorder characterized by the accumulati …
Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.
Vanier MT, Latour P. Vanier MT, et al. Methods Cell Biol. 2015;126:357-75. doi: 10.1016/bs.mcb.2014.10.028. Epub 2015 Jan 14. Methods Cell Biol. 2015. PMID: 25665455
The resulting accumulation of unesterified cholesterol in the LE/L compartment can be visualized by fluorescence microscopy after staining with filipin. The "filipin test," performed on cultured fibroblasts, is the historical gold standard metho …
The resulting accumulation of unesterified cholesterol in the LE/L compartment can be visualized by fluorescence micros …
Altered sensitivities to potential inhibitors of cholesterol biosynthesis in Niemann-Pick type C fibroblasts.
Ohno K, Nanba E, Nakano T, Inui K, Okada S, Takeshita K. Ohno K, et al. Cell Struct Funct. 1993 Aug;18(4):231-40. doi: 10.1247/csf.18.231. Cell Struct Funct. 1993. PMID: 8293500 Free article.
Cultured fibroblasts from patients with Niemann-Pick disease type C (NP-C) are characterized by the lysosomal accumulation of unesterified cholesterol and the inability of low-density lipoprotein (LDL) to stimulate cholesterol esterificat …
Cultured fibroblasts from patients with Niemann-Pick disease type C (NP-C) are characterized by the lysosomal accumulation …
Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.
Zarowski M, Steinborn B, Gurda B, Dvorakova L, Vlaskova H, Kothare SV. Zarowski M, et al. Eur J Paediatr Neurol. 2011 Jan;15(1):84-7. doi: 10.1016/j.ejpn.2010.02.001. Epub 2010 Mar 6. Eur J Paediatr Neurol. 2011. PMID: 20207562
A 9-year-old boy was admitted for assessments of frequent "drop attacks" while laughing. The filipin fluorescence tests of cultured skin fibroblasts revealed massive accumulation of unesterified cholesterol, confirming the diagnosis of NPC disea …
A 9-year-old boy was admitted for assessments of frequent "drop attacks" while laughing. The filipin fluorescence tests of cultured s …
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Ríos-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. Cannata Serio M, et al. Hepatology. 2020 Dec;72(6):1968-1986. doi: 10.1002/hep.31218. Hepatology. 2020. PMID: 32145091 Free PMC article.
As a consequence, lysosomal acidification and degradation of phagocytosed materials are impaired, causing lipid droplet (LD) accumulation in autolysosomes. Moreover, VMA21 deficiency triggers ER stress and sequestration of unesterified cholesterol in lysosome …
As a consequence, lysosomal acidification and degradation of phagocytosed materials are impaired, causing lipid droplet (LD) accumulation …
Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.
Surmeli-Onay O, Yakarisik S, Korkmaz A, Akcoren Z, Yuce A, Runz H, Stampfer M, Yurdakok M. Surmeli-Onay O, et al. Pediatr Neonatol. 2013 Oct;54(5):344-7. doi: 10.1016/j.pedneo.2013.01.015. Epub 2013 Mar 11. Pediatr Neonatol. 2013. PMID: 23597521 Free article.
Niemann-Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of unesterified cholesterol in the lysosomal/late endosomal system. ...Foamy cells with a lysosomal phospholipid storage pattern com …
Niemann-Pick type C (NPC; OMIM 257219) disease is a neurodegenerative lysosomal storage disorder characterized by accumulation of …
Clinical, pathologic, and biochemical features of a cholesterol lipidosis accompanied by hyperlipidemia and xanthomas.
Filling-Katz MR, Miller SP, Merrick HF, Travis WD, Gregg RE, Tsokos M, Comly M, Kaneski CR, Mackie S, Lebovics RS, et al. Filling-Katz MR, et al. Neurology. 1992 Sep;42(9):1768-74. doi: 10.1212/wnl.42.9.1768. Neurology. 1992. PMID: 1513468
Lipid analysis of a liver biopsy specimen showed a small increase in phospholipids, a twofold increase in sphingomyelin, a fivefold increase in cholesterol, and a marked (25-fold) increase in bis(monoacylglycerol) phosphate. Lysosomal acid hydrolase activities in cultur …
Lipid analysis of a liver biopsy specimen showed a small increase in phospholipids, a twofold increase in sphingomyelin, a fivefold increase …
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