Results 71 to 80 of about 30,962 (231)

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C [PDF]

, 2016
Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological symptoms. At present, the molecular mechanisms causing neurodegeneration in this disease are unknown.
Bembi, Bruno, Buratti, Emanuele, CANTERINI, Sonia, Dardis, Andrea, FIORENZA, Maria Teresa, Ghetti, Bernardino, Murrell, Jill, Newell, Kathy, Situani, Cristiana, Zampieri, Stefania   +9 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

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Journal of Rare Diseases
Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl   +6 more
doaj   +1 more source

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment [PDF]

, 2017
International audienceBackground: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs.
Damien Galanaud, Fanny Mochel, Frédéric Sedel, Isaac Adanyeguh, Marion Masingue, Yann Nadjar   +5 more
core   +2 more sources

The Narrative Continent: Discursive Recognition and the EU's Technological Actorness

JCMS: Journal of Common Market Studies, EarlyView.
Abstract Recognition in global politics is not only earned through institutions or capabilities; it is narrated into being. This article investigates how the European Union (EU) is framed as a technological actor in global discourse, focusing on the symbolic dynamics of discursive recognition.
Mahmoud Javadi
wiley   +1 more source

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Frontiers in Physiology, 2017
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Sandra Torres, Sandra Torres, Elisa Balboa, Silvana Zanlungo, Carlos Enrich, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +10 more
doaj   +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

Climate‐Neutrality Transition and Banks' Loan Pricing

Journal of Financial Research, EarlyView.
Abstract In this paper, we propose a novel methodology to quantify firms' climate‐change transition risk (CCTR) and its implications for credit markets. We utilize the regulatory framework of the European Green Deal's 2050 carbon neutrality roadmap, focusing on large Eurozone firms and their banking relationships.
Evangelos Salachas, Maria‐Eleni K. Agoraki, Georgios P. Kouretas   +2 more
wiley   +1 more source

Oxidative stress in Niemann–Pick disease, type C [PDF]

Molecular Genetics and Metabolism, 2010
Niemann-Pick disease, type C (NPC) is a neurodegenerative lysosomal storage disorder due to impaired intracellular cholesterol and lipid transport. Increased oxidative stress has been reported in human NPC1 mutant fibroblasts and in tissues from Npc1 mutant mice. However, oxidative stress in NPC patients has not been established.
Rao, Fu, Nicole M, Yanjanin, Simona, Bianconi, William J, Pavan, Forbes D, Porter   +4 more
openaire   +2 more sources

Mitochondrial Cholesterol in Alzheimer's Disease and Niemann–Pick Type C Disease

Frontiers in Neurology, 2019
Mitochondrial dysfunction has been recognized as a key player in neurodegenerative diseases, including Alzheimer's disease (AD) and Niemann–Pick type C (NPC) disease.
Sandra Torres, Sandra Torres, Carmen M. García-Ruiz, Carmen M. García-Ruiz, Carmen M. García-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +7 more
doaj   +1 more source