Results 21 to 30 of about 29,877 (187)

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. [PDF]

PLoS ONE, 2017
The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan   +12 more
doaj   +1 more source

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source

Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease [PDF]

, 2014
Alzheimer's disease (AD) and Niemann-Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Hećimović, Silva, Malnar, Martina, Mattsson, Niklas, Zetterberg, Henrik   +3 more
core   +1 more source

Perturbed cholesterol and vesicular trafficking associated with dengue blocking in Wolbachia-infected Aedes aegypti cells [PDF]

, 2017
Wolbachia are intracellular maternally inherited bacteria that can spread through insect populations and block virus transmission by mosquitoes, providing an important approach to dengue control.
Ant, Thomas H., Charles, Philip D., Dowle, Adam A., Geoghegan, Vincent, Hester, Svenja, Larson, Tony, Rainey, Stephanie M., Sinkins, Steven P., Stainton, Kirsty, Thomas, Benjamin   +9 more
core   +3 more sources

Ezetimibe therapy: mechanism of action and clinical update. [PDF]

, 2012
The lowering of low-density lipoprotein cholesterol (LDL-C) is the primary target of therapy in the primary and secondary prevention of cardiovascular events.
Dayspring, Thomas D, Phan, Binh An P, Toth, Peter P   +2 more
core   +1 more source

Fostering collaborative research for rare genetic disease: The example of Niemann-Pick type C disease [PDF]

, 2016
Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the
Austin, Christopher P, Davidson, Cristin D, Jacoby, Jonathan, Marella, Philip D, Ory, Daniel S, Ottinger, Elizabeth A, Porter, Forbes D, Vite, Charles H, Walkley, Steven U   +8 more
core   +2 more sources

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases

BMC Medicine, 2019
Background Niemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes.
Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman, Andrew P. Lieberman   +16 more
doaj   +1 more source

A master protocol to investigate a novel therapy acetyl-l-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia

Trials, 2021
Background The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development ...
T. Fields, M. Patterson, T. Bremova-Ertl, G. Belcher, I. Billington, G. C. Churchill, W. Davis, W. Evans, S. Flint, A. Galione, U. Granzer, J. Greenfield, R. Karl, R. Kay, D. Lewi, T. Mathieson, T. Meyer, D. Pangonis, F. M. Platt, L. Tsang, C. Verburg, M. Factor, M. Strupp   +22 more
doaj   +1 more source

Intestinal Acid Sphingomyelinase Protects From Severe Pathogen-Driven Colitis [PDF]

, 2019
Inflammatory diseases of the gastrointestinal tract are emerging as a global problem with increased evidence and prevalence in numerous countries. A dysregulated sphingolipid metabolism occurs in patients with ulcerative colitis and is discussed to ...
Becker, Katrin A., Ebel, Jana-Fabienne, Hose, Matthias [u.v.m.], Japtok, Lukasz, Klopfleisch, Robert, Meiners, Jana, Palmieri, Vittoria, Schumacher, Fabian, Yusuf, Ayan Mohamud, Zöller, Julia   +9 more
core   +1 more source

Knowledge-based gene expression classification via matrix factorization [PDF]

, 2008
Motivation: Modern machine learning methods based on matrix decomposition techniques, like independent component analysis (ICA) or non-negative matrix factorization (NMF), provide new and efficient analysis tools which are currently explored to analyze ...
A. M. Tomé, Affymetrix, Allison, Baldi, Barnhill, Bolstad, Breiman, Cardoso, Cardoso, Chen, D. Lutter, Diaz-Uriarte, Diaz-Uriarte, Dougherty, Dougherty, Dudoit, E. W. Lang, F. J. Theis, G. Schmitz, Galton, Galton, Golub, Guyon, Hochreiter, Irrizarry, Lee, Li, Liebermeister, Liu, Lutter, M. Stetter, Mangasarian, P. Gómez Vilda, P. Knollmüller, Pearson, Quackenbush, R. Schachtner, Saidi, Schachtner, Schachtner, Schölkopf, Simon, Spang, Talloen, Troyanskaya, Tusher, Wu, Wu   +47 more
core   +3 more sources