Results 61 to 70 of about 16,701 (225)

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. [PDF]

PLoS ONE, 2012
Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1, a pathological cascade including neuroinflammation, oxidative stress and neuronal apoptosis likely contribute to the clinical ...
Stephanie M Cologna, Xiao-Sheng Jiang, Peter S Backlund, Celine V M Cluzeau, Michelle K Dail, Nicole M Yanjanin, Stephan Siebel, Cynthia L Toth, Hyun-sik Jun, Christopher A Wassif, Alfred L Yergey, Forbes D Porter   +11 more
doaj   +1 more source

Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]

, 2019
In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon, Lee, Chia-Fang, Li, Wenjing, Sun, Hong, Xiong, Xiahui, Yu, Jiekai, Zhang, Hul, Zhu, Linyu   +7 more
core   +2 more sources

Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1. [PDF]

Genet Med Open
Cawley NX, Zhou R, Mylvara A, Padilla CJ, Alexander D, Farhat N, Alvarez C, Cougnoux A, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +11 more
europepmc   +3 more sources

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

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

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

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

Therapeutic potential of okra (Abelmoschus esculentus) in dysglycaemia and metabolic dysfunction: A systematic review and meta‐analysis across the diabetes spectrum

Experimental Physiology, EarlyView.
Abstract The aim of this systematic review and meta‐analysis was to evaluate comprehensively the therapeutic potential of Abelmoschus esculentus (okra) supplementation across the diabetes spectrum of key metabolic risk factors. A search was conducted in PubMed, Scopus, Web of Science, EMBASE and the Cochrane Library, up to 23 July 2025, to identify ...
Ali Jafari, Helia Mardani, Mohammad Amin Karimi, MohammadHossein Sahami Gilan, Helia Hemmat, Fatemeh Shoja, Nooshin Enayati Soofi, Ghazaleh Eslamian   +7 more
wiley   +1 more source

Modulation of the maladaptive stress response to manage diseases of protein folding. [PDF]

PLoS Biology, 2014
Diseases of protein folding arise because of the inability of an altered peptide sequence to properly engage protein homeostasis components that direct protein folding and function.
Daniela Martino Roth, Darren M Hutt, Jiansong Tong, Marion Bouchecareilh, Ning Wang, Theo Seeley, Johanna F Dekkers, Jeffrey M Beekman, Dan Garza, Lawrence Drew, Eliezer Masliah, Richard I Morimoto, William E Balch   +12 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source