Results 51 to 60 of about 12,273 (193)

Aberrant Phosphorylation of α-Synuclein in Human Niemann-Pick Type C1 Disease [PDF]

Journal of Neuropathology & Experimental Neurology, 2004
Niemann-Pick type C1 disease (NPC1) is an autosomal recessive neurovisceral storage disease caused by the mutation of NPC1 gene, resulting in perturbed intracellular transport of unesterified cholesterol. In NPC1, early-onset tauopathy is a constant feature.
Yuko, Saito, Kinuko, Suzuki, Christine M, Hulette, Shigeo, Murayama   +3 more
openaire   +2 more sources

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

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

Generation of an iPSC line (AKOSi006-A) from fibroblasts of an NPC1 patient, carrying the homozygous mutation p.I1061T (c.3182 T > C) and a control iPSC line (AKOSi007-A) using a non-integrating Sendai virus system

Stem Cell Research, 2020
Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids.
Christin Völkner, Maik Liedtke, Janine Petters, Katharina Huth, Gudrun Knuebel, Hugo Murua Escobar, Jörn Bullerdiek, Jan Lukas, Andreas Hermann, Moritz J. Frech   +9 more
doaj   +1 more source

Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. [PDF]

PLoS ONE, 2017
2-Hydroxypropyl-beta-cyclodextrin (HPβCD) has gained recent attention as a potential therapeutic intervention in the treatment of the rare autosomal-recessive, neurodegenerative lysosomal storage disorder Niemann-Pick Disease Type C1 (NPC1).
Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling   +5 more
doaj   +1 more source

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review [PDF]

, 2016
Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due to the wide range in age of onset
Bauer, P, Burlina, A, Coll, MJ, Gissen, P, Goizet, C, Hendriksz, CJ, Kolb, SA, Latour, P, Marquardt, T, Vanier, MT, Welford, RWD   +10 more
core   +2 more sources

Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing [PDF]

, 2017
State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment.
1, 1 B. Gandolfi, 1 C. R. Reinero, 1 D. P. O'Brien, 1 J. L. Spooner, 2 L. A. Lyons, Adam R. Boyko, and 99 Lives Consortium: Danielle Aberdein, Christopher B. Kaelin, Christopher R. Helps, D. A. Mauler, Dorian J. Garrick, Elizabeth A. Wilcox, Emilie Leclerc, Gregory S. Barsh, Hannes Lohi, Holly C. Beale, Jeffrey A. Brockman, John S. Munday, Jonathan E. Fogle, Joshua A. Stern, Julia H. Wildschutte, Karen A. Terio, Maria Kaukonen, Maria Longeri, Marjo K. Hytönen, Marta G. Castelhano, Max F. Rothschild, Michael J. Montague, N. Matthew Ellinwood, Niels C. Pedersen, Patricia P. Chan, Paulo C. Alves, Richard Malik, Rory J. Todhunter, Tosso Leeb, Wesley C. Warren, William F. Swanson, William J. Murphy, Yu Ueda   +39 more
core   +1 more source

Intestinal Source Control of Lipid Metabolism by Enzyme‐Probiotic Encapsulated, Spatiotemporal Crosslinked, and Small Intestine‐Adhesive Hydrogel Microspheres

Advanced Science, EarlyView.
A thiol‐modified alginate hydrogel microsphere‐encapsulated enzyme‐probiotic biohybrid (AKK‐COD) system has been developed to address the spatiotemporal delivery and colonization challenges of small intestine‐targeted probiotic for lipid metabolism regulation. The system exerts sequential functions of intragastric protection, small intestinal adhesion,
Xiaolin Wu, Weiwen Liang, Siqi He, Guangyuan Chen, Hui Zhou, Xinglong Wang, Yifei Li, Dingcai Wu, Bingna Zheng, Ruoxu Dou, Rongkang Huang   +10 more
wiley   +1 more source

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. [PDF]

, 2017
PURPOSE OF REVIEW: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay.
Anheim, M, Bauer, P, Bonnot, O, Clayton, P, Dardis, A, Dionisi-Vici, C, Gissen, P, Klünemann, H-H, Latour, P, Lourenço, CM, Marquardt, T, Ory, DS, Parker, A, Patterson, MC, Pocoví, M, Strupp, M, Vanier, MT, Walterfang, M   +17 more
core   +3 more sources

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source