Niemann-Pick disease type C (NPC) is an inherited lipid storage disorder caused by mutations in NPC1 or NPC2. NPC1 is a polytopic glycoprotein that contains a sterol-sensing domain, whereas NPC2 is a soluble protein that contains an MD-2-like lipid-recognition domain. In the current study, we addressed the hypothesis that ubiquitylation of NPC1 might be regulated by cholesterol. We found that d...

NPC (Niemann-Pick type C) disease is a rare lipidosis characterized by the accumulation of LDL (low-density lipoprotein)-derived non-esterified cholesterol in the E/L (endosomal/lysosomal) system. The gene products that are responsible for the two NPC complementation groups are distinct and dissimilar, yet their cellular and disease phenotypes are virtually indistinguishable. To investigate the...

Niemann-Pick C (NPC) disease is a fatal neurodegenerative disorder characterized by a lysosomal accumulation of cholesterol and other lipids within the cells of patients. Clinically identical forms of NPC disease are caused by defects in either of two different proteins: NPC1, a lysosomal-endosomal transmembrane protein and NPC2, a soluble lysosomal protein with cholesterol binding properties. ...

Background Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann–Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential ...

Daniel Hauser, Melvin W.Eklund, Hisao Kurazono, Thomas Binz, Heiner Niemann, D.Michael Gill, Patrice Boquet and Michel R.Popoff* Unite des Anaerobies and 1 Unite des Antigenes Bacteriens, Institut Pasteur, 28 rue du Dr. Roux-75724 Paris cedex 15, France, Northwest and Alaska Fisheries Center, 2725 Montlake Boulevard East, Seattle, WA 98112, USA, lnstitut fur Mikrobiologie an der Bundesforschung...

Citation: The PLOS ONE Staff (2014) Correction: The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action. PLoS ONE 9(7): e103797. doi:10.1371/journal.pone.0103797 Published July 22, 2014 Copyright: 2014 The PLOS ONE Staff. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution,...

The first € price and the £ and $ price are net prices, subject to local VAT. Prices indicated with * include VAT for books; the €(D) includes 7% for Germany, the €(A) includes 10% for Austria. Prices indicated with ** include VAT for electronic products; 19% for Germany, 20% for Austria. All prices exclusive of carriage charges. Prices and other details are subject to change without notice. Al...

Case presentation: This is a report of female patient from Hospital Municipal Jesus, seven years old, born in Rio de Janeiro, without gestational and perinatal history abnormalities, that at six months old after persistent abdominal distension, was diagnosed with splenomegaly spontaneous regression. When two began gait disturbances, later paresis on the right inferior limb, recurrent loss balan...

The intracellular accumulation of unesterified cholesterol was examined during 24 h of low density lipoprotein (LDL) uptake in normal and Niemann-Pick C fibroblasts by fluorescence microscopy with filipin staining and immunocytochemistry. Perinuclear fluorescence derived from filipin-sterol complexes was observed in both normal and mutant cells by 2 h. This perinuclear cholesterol staining reac...