Results 81 to 90 of about 12,273 (193)

Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease. [PDF]

PLoS ONE, 2013
Niemann-Pick C (NPC) disease is due to loss of NPC1 or NPC2 protein function that is required for unesterified cholesterol transport from the endosomal/lysosomal compartment.
Blair R Roszell, Jian-Qin Tao, Kevin J Yu, Ling Gao, Shaohui Huang, Yue Ning, Sheldon I Feinstein, Charles H Vite, Sandra R Bates   +8 more
doaj   +1 more source

A Novel Small NPC1 Promoter Enhances AAV-Mediated Gene Therapy in Mouse Models of Niemann–Pick Type C1 Disease

Cells, 2023
Niemann–Pick disease type C1 (NP-C) is a prematurely lethal genetic lysosomal storage disorder with neurological and visceral pathology resulting from mutations in the NPC1 gene encoding the lysosomal transmembrane protein NPC1.
Michael Paul Hughes, Hemanth Ramesh Nelvagal, Oliver Coombe-Tennant, Dave Smith, Claire Smith, Giulia Massaro, Laura Poupon-Bejuit, Frances Mary Platt, Ahad Abdul Rahim   +8 more
doaj   +1 more source

Changes to cholesterol trafficking in macrophages by Leishmania parasites infection [PDF]

, 2017
Leishmania spp. are protozoan parasites that are transmitted by sandfly vectors during blood sucking to vertebrate hosts and cause a spectrum of diseases called leishmaniases.
Anderson, Andrade-Neto, Antoine, Bansal, Berman, Blanchette-Mackie, Burack, Carstea, Carvalho, Chakraborty, Chattopadhyay, Collins, Coombs, Coppens, De Cicco, Desvergne, Duclos, Edwards, Ehrenman, Fernandes, Ghosh, Ghosh, Ghosh, Ginger, Ginger, Goldstein, Groener, Hamid, Hart, Ikonen, Infante, Johndrow, Kima, Kima, Kok, Kwon, Lal, Lecoeur, Lippuner, Livak, Majumder, Maxfield, McIntosh, Misslitz, Naureckiene, Neufeld, Osorio y Fortea, Ovalle-Bracho, Paape, Paape, Pereira, Portugal, Pucadyil, Rabhi, Redgrave, Roberts, Rosenzweig, Rub, Russell, Saunders, Sen, Shamshiev, Soares, Sorensen, Tetley, Tewary, Tontonoz, Weinheber   +67 more
core   +2 more sources

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann‐Pick Disease Type C

Journal of Extracellular Biology, Volume 5, Issue 4, April 2026.
ABSTRACT Niemann‐Pick disease type C (NPC) is a rare neurodegenerative disease primarily caused by mutations in the NPC1 gene, which is associated with cholesterol trafficking impairment, and disruption of endolysosomal processing and extracellular vesicles (EVs).
Sarah Catherine BB Hawthorne, Ursula S Sandau, Trevor J McFarland, Elizabeth Berry‐Kravis, Julie A Saugstad   +4 more
wiley   +1 more source

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention. [PDF]

Hum Mol Genet, 2018
Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative disorder with limited treatment options. NPC1 is associated with neuroinflammation; however, attempts to therapeutically target neuroinflammation in NPC1 have had mixed success. We show here that NPC1 neuroinflammation is characterized by an atypical microglia activation phenotype ...
Cougnoux A, Drummond RA, Collar AL, Iben JR, Salman A, Westgarth H, Wassif CA, Cawley NX, Farhat NY, Ozato K, Lionakis MS, Porter FD.   +11 more
europepmc   +4 more sources

Synergistic antiviral activity against human adenovirus through combination of itraconazole and brincidofovir

British Journal of Pharmacology, Volume 183, Issue 7, Page 1578-1601, April 2026.
Background and Purpose Human adenovirus (HAdV) causes respiratory or gastrointestinal tract infections depending on the virus subtype. While HAdV infections are generally self‐limiting in immunocompetent people, they can result in significant morbidity and mortality in immunocompromised adults and children.
Mohamed Zamzamy, Sophie Post, Wing Hang Ip, Elin Hahlin, Sebastian Kühn, Andrea Pirosu, Christian Conze, Martin Baumdick, Hamburg Intestinal Study Group, Madeleine J. Bunders, Britta F. Zecher, Angelique Hoelzemer, Stephan Linder, Niklas Arnberg, Thomas Dobner, Marcus Altfeld, Sebastian Schloer   +16 more
wiley   +1 more source

Sphingolipids and mitochondrial function, lessons learned from yeast

Microbial Cell, 2014
Mitochondrial dysfunction is a hallmark of several neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease, but also of cancer, diabetes and rare diseases such as Wilson’s disease (WD) and Niemann Pick type C1 (NPC).
Pieter Spincemaille, Bruno P.A. Cammue, Karin Thevissen   +2 more
doaj   +1 more source

Gut Microbiota‐Non‐Coding RNA Axis in Immune Modulation and Disease: From Mechanisms to Clinical Translation

Advanced Science, Volume 13, Issue 16, 18 March 2026.
ABSTRACT Immune homeostasis is indispensable for preserving organismal integrity, orchestrated through complex molecular networks encompassing immune cell dynamics, microbial cues, and epigenetic regulation. Among these, the gut microbiota‐non‐coding RNA (ncRNA) axis has recently garnered substantial attention as a multifaceted modulator of host ...
Bonan Chen, Guoming Chen, Xieyuan Leng, Qianfan Li, Wenhao Wu, Wenqiu Wu, Zixuan Liu, Zilan Zhong, Xiaohong Zheng, Wei Kang, Fazheng Ren, Yigan Zhang, Juan Chen   +12 more
wiley   +1 more source

Metaproteome Analysis of Short‐Term Thermal Stress in Three Sympatric Coral Species Reveals Divergent Host Responses

Ecology and Evolution, Volume 16, Issue 3, March 2026.
Short‐term thermal stress triggers distinct molecular responses in three sympatric coral species with contrasting thermal resilience. Proteomic and metabolomic profiling reveal both species‐specific and limited shared pathways underlying these stress responses.
Shrinivas Nandi, Timothy G. Stephens, Erin E. Chille, Samantha Goyen, Line K. Bay, Debashish Bhattacharya   +5 more
wiley   +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