Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]
, 2019 There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J +4 more
core +2 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 +3 more
core +1 more source
Niemann-Pick C1-Like 1 (NPC1L1) Inhibition and Cardiovascular Diseases [PDF]
Current Medicinal Chemistry, 2016 Circulating levels of cholesterol are derived from either endogenous production or intestinal absorption of dietary and biliary cholesterol. Niemann-Pick C1-Like 1 (NPC1L1) is a transmembrane protein that plays a key role in the intestinal absorption of cholesterol by facilitating its uptake through vesicular endocytosis. NPC1L1 is the molecular target
PIRILLO, ANGELINA ANNA +2 more
openaire +4 more sources
Cancer Nexus, Volume 2, Issue 2, April 2026.ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han +5 more
wiley +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 +7 more
core +2 more sources
Fatty acid metabolism—an emerging regulatory node in T‐cell immunometabolism
Clinical &Translational Immunology, Volume 15, Issue 4, 2026.Abstract While the roles of glucose metabolism and tricarboxylic acid (TCA) cycle intermediates in immune regulation are well established, the contribution of fatty acid metabolism remains less well defined. In this review, we examine current knowledge on the immunomodulatory functions of fatty acid metabolism, with a particular focus on T‐cell biology.
Brett Chapel Arenberg +2 more
wiley +1 more source
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease [PDF]
, 2016 This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid)
Camuzeaux, S +13 more
core +1 more source
Niemann-Pick Type C1 (NPC1) Overexpression Alters Cellular Cholesterol Homeostasis [PDF]
Journal of Biological Chemistry, 2000 The Niemann-Pick type C1 (NPC1) protein is a key participant in intracellular trafficking of low density lipoprotein cholesterol, but its role in regulation of sterol homeostasis is not well understood. To characterize further the function of NPC1, we generated stable Chinese hamster ovary (CHO) cell lines overexpressing the human NPC1 protein (CHO ...
E E, Millard +4 more
openaire +2 more sources
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 +4 more
wiley +1 more source
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study [PDF]
, 2017 Additional file 1.
Carmen Dominguez +9 more
core +3 more sources