Niemann-Pick type C

Arora S, Beaudry C, Bisanz KM et al (2010) A high-content RNAi-screening assay to identify modulators of cholesterol accumulation in Niemann-Pick type C cells. Assay Drug Dev Technol 8 295-320... [Pg.95]

Cholesterol storage in lysosomes/endosomes is a hallmark of Niemann-Pick type C disease. The assay is based on the procedure described by Vanier et al. [58]. [Pg.370]

Vanier MT (1997) Phenotypic and genetic heterogeneity in Niemann-Pick type C current knowledge and practical implications. Wien Klin Wochenschr 109 68-73... [Pg.377]

Kambayashi T, Abe M, Fujimoto S, Miyachi T, Takahashi T, Yano T, Sawaishi Y, Arii J, Szilagyi G, Shimizu T (2003) Hypocretin deficiency in Niemann-Pick type C with cataplexy. Neumpediatrics 34 52-53... [Pg.56]

O. Macheleidt, T. Kolter, K. Sandhoff, Sphingolipid activator deficiencies and Niemann-Pick Type C,... [Pg.59]

Pacheco CD, Lieberman AP (2008) The pathogenesis of Niemann-Pick type C disease a role for autophagy Expert Rev Mol Med 10 e26... [Pg.797]

Harzer K, Massenkeil G, Frohlich E. Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders. EEBS Lett. 2003 537 177-181. [Pg.956]

Other lines of evidence also support the notion that deregulated cholesterol homeostasis may contribute to the AD pathogenesis. AD patients have been reported to develop intracellular A/1 accumulation in the late endo-somes and lysosomes. Similar pathological features, including swollen late endosomes and A/ accumulation, have also been reported in Niemann-Pick type C disease patients [52,53], Npcl deficient mice as well as in mouse models of AD [54,55]. The Npcl gene product is essential for the mobihzation of cellular cholesterol. Excess cholesterol can be transported into endoplasmic reticulum and esterified by acyl co enzyme A cholesterol acyltransferase (ACAT) and stored in lipid droplets. Inhibition of ACAT activity has been reported to reduce A/3 levels in vitro and plaque pathology in animal models of AD [56,57]. [Pg.91]

Vainio S, Bykov I, Hermansson M, et al. (2005) Defective insulin receptor activation and altered lipid rafts in Niemann-Pick type C disease hepatocytes. Biochem J 391(Pt 3) 465 72... [Pg.124]

Griffin, L. D., Gong, W., Verot, L. and Mellon, S. H. Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Nature Med 10 (2004)... [Pg.265]

Xie, C., Burns, D. K., Turley, S. D. and Dietschy, J. M. Cholesterol is sequestered in the brains of mice with Niemann-Pick type C disease but turnover is increased. J Neuropathol Exp Neurol 59 (2000) 1106-1117. [Pg.268]

In this chapter the focus will be on the most common LSDs with neurological involvement, Niemann-Pick type C, types II and III Gaucher disease, GMl and GM2 gangliosidosis. [Pg.447]

Baudry, M., Yao, Y., Simmons, D., Liu, J., and Bi, X., Postnatal development of inflammation in a murine model of Niemann-Pick type C disease immunohistochemical observations of microglia and astroglia, Exp Neurol 184 (2003) 887-903. [Pg.461]

Takikita, S., Fukuda, T., Mohri, I., Yagi, T., and Suzuki, K., Perturbed myelination process of premyelinating oligodendrocyte in Niemann-Pick type C mouse, J Neuropathol Exp Neurol 63 (2004) 660-673. [Pg.465]

An interrogation of the Pubmed database for 2006-7 returns nearly 1000 articles and 132 reviews for lipidoses . Of these the predominant subject is the glycolipidoses excluding sterol disorders (e.g., Niemann-Pick type C and... [Pg.567]

NPCl Cholesterol Niemann-Pick type C disease... [Pg.458]

Schedin, S, Sindelar, PJ, Pentchev, P, Brunk, U and Dallner, G (1997) Peroxisomal impairment in Niemann-Pick type C disease. J Biol Chem, 272, 6245-6251. [Pg.133]

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