نتایج جستجو برای: npc2

تعداد نتایج: 199  

Journal: :iranian journal of child neurology 0
shadab salehpour 1. genomic research center, shahid beheshti university of medical sciences, tehran, iran 2. department of pediatric endocrinology and metabolism, loghman hakim hospital, shahid beheshti university of medical sciences, tehran, iran

how to cite this article: salehpour sh. diagnostic methods for neimann-pick type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 16-17.   pls see pdf.

Journal: :Plant Journal 2021

Non-specific phospholipase Cs (NPCs) are responsible for membrane lipid remodeling that involves hydrolysis of the polar head group phospholipids. Arabidopsis NPC2 and NPC6 essential in gametogenesis, but their underlying role remains elusive. Here, we show these NPCs required triacylglycerol (TAG) production pollen tube growth. highly expressed developing tubes localized at endoplasmic reticul...

Journal: :The Journal of biological chemistry 2012
Miao Xu Ke Liu Manju Swaroop Forbes D Porter Rohini Sidhu Sally Firnkes Daniel S Ory Juan J Marugan Jingbo Xiao Noel Southall William J Pavan Cristin Davidson Steven U Walkley Alan T Remaley Ulrich Baxa Wei Sun John C McKew Christopher P Austin Wei Zheng

Niemann-Pick disease type C (NPC) and Wolman disease are two members of a family of storage disorders caused by mutations of genes encoding lysosomal proteins. Deficiency in function of either the NPC1 or NPC2 protein in NPC disease or lysosomal acid lipase in Wolman disease results in defective cellular cholesterol trafficking. Lysosomal accumulation of cholesterol and enlarged lysosomes are s...

Journal: :American journal of physiology. Lung cellular and molecular physiology 2012
Blair R Roszell Jian-Qin Tao Kevin J Yu Shaohui Huang Sandra R Bates

The Niemann-Pick C (NPC) pathway plays an essential role in the intracellular trafficking of cholesterol by facilitating the release of lipoprotein-derived sterol from the lumen of lysosomes. Regulation of cellular cholesterol homeostasis is of particular importance to lung alveolar type II cells because of the need for production of surfactant with an appropriate lipid composition. We performe...

Journal: :PLoS Genetics 2005
Dennis C Ko Ljiljana Milenkovic Steven M Beier Hermogenes Manuel JoAnn Buchanan Matthew P Scott

Niemann-Pick type C is a neurodegenerative lysosomal storage disorder caused by mutations in either of two genes, npc1 and npc2. Cells lacking Npc1, which is a transmembrane protein related to the Hedgehog receptor Patched, or Npc2, which is a secreted cholesterol-binding protein, have aberrant organelle trafficking and accumulate large quantities of cholesterol and other lipids. Though the Npc...

Journal: :The Biochemical journal 2007
Sayali S Dixit David E Sleat Ann M Stock Peter Lobel

NPC1L1 (Niemann-Pick C1-like 1), the pharmacological target of the cholesterol-uptake inhibitor ezetimibe, is a transporter localized on the brush border of enterocytes. Although this protein plays a key role in intestinal uptake of sterols, multiple molecular events that underlie intestinal cholesterol absorption have not been fully characterized. Two proteins that might be involved in this pr...

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