Sort   by:  
 Page size 
MetabolomicsPlasmodium Niemann-Pick Type C1-Related Protein is a Druggable Target Required for Parasite Membrane Homeostasis
Not available
ORGANISM(S): Plasmodium falciparum 
ST001149 | MetabolomicsWorkbench
TranscriptomicsNiemann-Pick type C fibroblast analysis
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....
ORGANISM(S): Homo sapiens 
2007-08-15 | E-GEOD-8770 | biostudies-arrayexpress
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
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
TranscriptomicsGlobal gene expression change in the cerebellum of Niemann-Pick disease type C mice with deletion of Ccl3 or Purkinje neuron-specific NPC1 rescue
Macrophage inflammatory protein 1alpha/CCL3 protein is a known pro-inflammatory cytokine that can mediate chemotaxis of monocytes and promote cell degranulation. Ccl3 gene expression is elevated in the CNS and visceral tissue of many lysosomal storage disorders. The deletion of Ccl3 in a mouse model...
ORGANISM(S): Mus musculus 
2012-04-16 | E-GEOD-36119 | biostudies-arrayexpress
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 
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 proteomics of human NPC1-I1061T mutant fibroblasts provides insights into the pathogenesis of Niemann-Pick Type C disease
Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartments. Mutations in the NPC1 protein are implicated in 95% of patients with NPC disease. The most prevalent mutation is the mis...
ORGANISM(S): Homo sapiens (Human) 
2015-04-20 | PXD001938 | Pride
Npc Quantitative proteomics Npc1-i1061t Mass spectrometry Tandem mass tags Tmt Mudpit Niemann-pick type c Proteomics Isobaric labeling 
UnknownCyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells.
Not available
S-EPMC6446697 | biostudies-literature
Proteomicslysosome proteomics in Niemann-Pick Type C disease model cells (CHOwt and NPC1-null cells)
Increasing evidence implicates lysosomal dysfunction in the pathogenesis of neurodegenerative diseases, including the rare inherited lysosomal storage disorders (LSDs) and the most common neurodegenerative diseases, such as Alzheimer’s and Parkinson’s disease (AD and PD). The goal of this work was t...
ORGANISM(S): Homo sapiens (Human) 
2018-03-21 | PXD008438 | Pride
Magnetic nanoparticles lysosome enrichment Npc1-null cells Chowt cells Lysosome Lc-ms/ms 
Sort   by:  
 Page size