Cholesterol Deficiency Directs Autophagy‐Dependent Secretion of Extracellular Vesicles
Journal of Extracellular Vesicles, Volume 15, Issue 1, January 2026.Inhibition of cholesterol biosynthesis within models of rare disease and cancer causes increased release of small extracellular vesicles (sEVs) with distinct biological properties. Mechanistically, cholesterol depletion leads to impaired autophagic flux, redirection of autophagosomes to late endosomes, and subsequently increased sEV secretion ...
Jazmine D. W. Yaeger +6 more
wiley +1 more source
Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance [PDF]
, 2010 In Npc1 null mice, a model for Niemann Pick Disease Type C1, it has been reported that hepatocyte insulin receptor function is significantly impaired, consistent with growing evidence that membrane fluidity and microdomain structure have an important ...
C Musso +22 more
core +1 more source
Targeting molecular chaperone HSP90 to treat Niemann‐Pick type C1 disease
The FASEB Journal, 2018 NPC1 is a fatal, lysosomal neurovisceral storage disease caused by mutations in the npc1 gene. More than 200 different disease‐associated mutations are reported in patients, resulting in abnormal accumulation of unesterified cholesterol, glycosphingolipids and other lipids in late endosome ...
Nina H. Pipalia, Frederick R. Maxfield
openaire +1 more source
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]
, 2013 Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo +8 more
core +2 more sources
Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease [PDF]
, 2014 Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene.
Annik Lampo +3 more
core +1 more source
Diseases, 2016 Niemann-Pick Disease, type C1 (NPC1) is a rapidly progressive neurodegenerative disorder characterized by cholesterol sequestration within late endosomes and lysosomes, for which no reliable imaging marker exists for prognostication and management ...
Meghann W. Lau +9 more
doaj +1 more source
Journal of Lipid Research, 2010 Niemann-Pick type C1 disease (NPC1) is an autosomal recessive lysosomal storage disorder characterized by neonatal jaundice, hepatosplenomegaly, and progressive neurodegeneration.
William S. Garver +9 more
doaj +1 more source
Aberrant Promoter Methylation Profile of Niemann-Pick Type C1 Gene in Cardiovascular Disease
Iranian biomedical journal, 1996 Iranian Biomedical Journal (IBJ); ISSN 1028 ...
Masoumeh, Afzali +4 more
openaire +2 more sources
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1
Neurobiology of Disease, 2009 Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal disorder characterized by sphingolipid and cholesterol storage in the late endocytic system.
David Smith +4 more
doaj +1 more source
Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism [PDF]
, 2015 Unregulated cellular uptake of apolipoprotein B-containing lipoproteins in the arterial intima leads to the formation of foam cells in atherosclerosis. Lysosomal acid lipase (LAL) plays a crucial role in both lipoprotein lipid catabolism and excess lipid
Gordon A. Francis, Joshua A. Dubland
core +2 more sources