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MetabolomicsPlasmodium Niemann-Pick Type C1-Related Protein is a Druggable Target Required for Parasite Membrane Homeostasis
Not available
ORGANISM(S): Plasmodium falciparum 
ST001149 | MetabolomicsWorkbench
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
TranscriptomicsTranscription profiling of primary skin fibrolasts from Niemann-Pick type C patients homozygous for the I1061T mutation
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 
2007-01-05 | E-SMDB-3835 | biostudies-arrayexpress
OtherDecreased Phosphoinositides Provide Insight to the Neurogenerative Disorder, Niemann-Pick Disease Type C1
Decreased Phosphoinositides Provide Insight to the Neurogenerative Disorder, Niemann-Pick Disease Type C1
ORGANISM(S): Mus Musculus 
2018-12-28 | MSV000083287 | MassIVE
ProteomicsCHEMICAL PROTEOMIC ANALYSIS OF ENDOCANNABINOID HYDROLASE ACTIVITY IN NIEMANN-PICK TYPE C MOUSE BRAIN
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
Mouse Brain Orbitrap Activity-based protein profiling Niemann-pick type c Synapt 
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 
ProteomicsQuantitative analysis of the proteome response to the histone deacetylase inhibitor (HDACi) Vorniostat in Niemann-Pick Type C1 disease
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
Proteomics Niemann-pick type c1 (npc1) disease npc1 Tmt Tandem mass tag Lipa Quantitative proteomics Lysosomal acid lipase Vorinostat 
UnknownIntracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.
Not available
S-EPMC4415615 | biostudies-literature
GenomicsTranscriptome of 2-hydroxypropyl-beta-cyclodextrin treatment in Niemann-Pick disease type C1
Transcriptome of 2-hydroxypropyl-beta-cyclodextrin treatment in Niemann-Pick disease type C1
PRJNA717336 | ENA
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