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MetabolomicsNPC1 regulates the distribution of phosphatidylinositol 4 kinases at Golgi and Lysosome membranes
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
MetabolomicsPlasmodium Niemann-Pick Type C1-Related Protein is a Druggable Target Required for Parasite Membrane Homeostasis
Not available
ORGANISM(S): Plasmodium falciparum 
ST001149 | MetabolomicsWorkbench
ProteomicsProteomic analysis of S-acylated proteins in human retinal pigment epithelial cells reveals the role of palmitoylation of Niemann–Pick type C1 protein in cholesterol transportation
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
Niemann-pick type c1 protein Retinal pigment epithelial cells Palmitoylation 
ProteomicsFinding New Drug Targets for Niemann Pick Type C Hepatic Disease Based On Proteomic Network Analysis
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
Lc-ms Liver Hepatocytes Niemann pick type c Npc 
UnknownUtility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1.
Not available
S-EPMC12638010 | biostudies-literature
UnknownValidation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
Not available
S-EPMC7881637 | biostudies-literature
UnknownPlasma phosphorylated-tau217 is increased in Niemann-Pick disease type C.
Not available
S-EPMC11535543 | biostudies-literature
UnknownCyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells.
Not available
S-EPMC6446697 | biostudies-literature
UnknownModeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.
Not available
S-EPMC6886506 | biostudies-literature
UnknownCholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).
Not available
S-EPMC4204776 | biostudies-literature
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