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Cholesterol and phosphoinositides (PI) are two critically important lipids that are found in cellular membranes and dysregulated in many disorders. Therefore, uncovering molecular pathways connecting these essential lipids may offer new therapeutic insights. We report that loss of function of lysoso...
2021-09-15 | MTBLS2612 | MetaboLights
Primary skin fibroblasts from four Niemann-Pick type C patients homozygous for the I1061T mutation and four control individuals were cultured under identical conditions in DMEM containing 10% fetal bovine serum. Cells were harvested at 50-70% confluency. mRNA was isolated with the FastTrack 2.0...
ORGANISM(S): Homo sapiens 
Palmitoylation is a dynamic process which regulates the activity of the modified proteins. Retinal pigment epithelial (RPE) cells play pivotal roles in visual cycle and maintaining healthy photoreceptor cells. Dysfunctional RPE cells are often associated with degenerative retinal diseases. The aim o...
ORGANISM(S): Homo sapiens (Human) 
2023-03-10 | PXD034896 | Pride
The endocannabinoid system is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick Type C is a neurodegenerative disease in which the role of the endocannabinoid system has not been studied yet. Here, we report the endocannabinoid hydrolase activity in...
ORGANISM(S): Mus musculus (Mouse) 
2018-04-19 | PXD008979 | Pride
A significant area of rare diseases research is the investigation of druggable protein encoding genes that contribute to pathogenesis. Niemann Pick Type C (NPC) disease can be considered as a challenging one, among all rare diseases, because it has been associated with a poor prognosis and an unclea...
ORGANISM(S): Mus musculus (Mouse) 
2021-08-23 | PXD026623 | Pride
Niemann-Pick type C (NPC) disease is an inherited, progressive neurodegenerative disorder principally caused by mutations in the NPC1 gene. NPC disease is characterized by the accumulation of unesterified cholesterol in the late endosomes (LE) and lysosomes (LE) (LE/LY). Vorinostat, a histone deacet...
ORGANISM(S): Homo sapiens (Human) 
2017-09-11 | PXD006005 | Pride
Niemann Pick Type C1 (NPC1) is an endolysosomal transmembrane protein involved in the export of cholesterol and sphingolipids to other cellular compartments such as the endoplasmic reticulum and plasma membrane. NPC1 loss of function is the major cause of NPC disease, a rare lysosomal storage disord...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2023-03-31 | PXD039881 | Pride
Codon-Optimized Npc1 mRNA corrects Niemann-Pick Type C1 disease phenotypes in vitro and in vivo [snRNA-Seq]
Codon-Optimized Npc1 mRNA corrects Niemann-Pick Type C1 disease phenotypes in vitro and in vivo [RNA-Seq]
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