Results 41 to 50 of about 25,991 (218)

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat [PDF]

, 2015
Peer reviewedPublisher ...
Abel, Larry A, Bowman, Elizabeth A, Stainer, Matthew J, Velakoulis, Dennis, Walterfang, Mark   +4 more
core   +3 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

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

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Cholesterol in Niemann–Pick Type C disease [PDF]

, 2010
Niemann-Pick Type C (NPC) disease is associated with accumulation of cholesterol and other lipids in late endosomes/lysosomes in virtually every organ; however, neurodegeneration represents the fatal cause for the disease. Genetic analysis has identified loss-of-function mutations in NPC1 and NPC2 genes as the molecular triggers for the disease ...
Xiaoning, Bi, Guanghong, Liao
openaire   +2 more sources

Cellular Mechanisms in Niemann Pick type C disease [PDF]

, 2012
Over 200 disease-causing mutations have been identified in the NPC1 gene. NPC1 is a 1278 amino acid protein with 13 transmembrane domains that is crucial for normal cholesterol homeostasis.
DELLA SALA, GRAZIA
core  

Miglustat Reverts the Impairment of Synaptic Plasticity in a Mouse Model of NPC Disease [PDF]

, 2016
Niemann-Pick type C disease is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the late endolysosomal compartment of cells and accumulation of gangliosides and other sphingolipids ...
Cardinale, A, Cutarelli, A, D'Arcangelo, G, Frank, C, Grossi, D, Merlo, D, Racaniello, M, Rufini, S, Tancredi, V, Zaratti, A   +9 more
core   +4 more sources

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

Targeting the PGRN‐BMP Lysosomal Axis With NPs@PGRN Reverses Immunometabolic Dysfunction in Chronic Septic Arthritis

Advanced Science, EarlyView.
Chronic septic arthritis involves intracellular bacterial persistence and lipid‐immune crosstalk via the PGRN‐BMP lysosomal axis. A dual‐targeting nanoparticle system (NPs@PGRN) restores lysosomal bactericidal function, reduces bacterial burden, and reprograms macrophage immunity, offering a novel therapeutic strategy. ABSTRACT Chronic septic arthritis,
Congsun Li, Jiaqi Fan, Tao Sun, Wushi Cui, Jiaxuan Zou, Weinan Yang, Liang Chen, Jian Xiao, Shicheng Wang, Tao Zhang, Jianqiao Hong, An Liu, Haobo Wu   +12 more
wiley   +1 more source

Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series

Molecular Genetics and Metabolism Reports
Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes.
Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki   +6 more
doaj   +1 more source