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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
ProteomicsProteomic analysis of MNT-1 cells deficient in NPC1 protein
A novel MNT-1 cell line deficient in NPC1 protein was generated using CRISPR/CAS9 knock-out method. In the absence of the NPC1 protein the pigmentation status of the cells was changed and alterations in the melanogenesis process were observed. In order to characterize the role of NPC1 protein in the...
ORGANISM(S): Homo sapiens (Human) 
2023-07-24 | PXD042762 | Pride
Melanogenesis Npc1 protein Proteome Mnt-1 
TranscriptomicsTranscription profiling of mouse BALB/c Npc1-/- and Npc1+/+ mutant cerebellum
Purkinje cells (PC) of the cerebellum degenerate in adult mice with mutations in the Niemann-Pick type C (NPC) disease 1 (Npc1) gene. We subjected BALB/c Npc1+/+ and Npc1-/- mouse cerebella from an early and a later time point of PC degeneration to a genome-wide microarray gene expression analysis. ...
ORGANISM(S): Mus musculus 
2008-06-14 | E-GEOD-5944 | biostudies-arrayexpress
TranscriptomicsMicroarray analysis in Npc1-/- mouse cerebellum
Niemann-Pick Type C disease is an autosomal recessive neurodegenerative disorder with abnormal lipid storage as the major cellular pathologic hallmark. Genetic analyses have identified mutations in NPC1 gene in the great majority of cases, while mutations in NPC2 account for the remainders. Yet, lit...
ORGANISM(S): Mus musculus 
2010-08-30 | E-GEOD-20450 | biostudies-arrayexpress
TranscriptomicsExpression data from liver tissue from Npc1 mouse model
We used microarrays to detail the global programme of gene expression underlying the disease progression in the mutant mice compared to their control littermates. We collected liver tissue from 1-, 3-, 5-, 7-, 9-, and 11-week-old Npc1+/+ and Npc1-/- mice (N=4), and some additional controls.
ORGANISM(S): Mus musculus 
2012-07-11 | E-GEOD-33467 | biostudies-arrayexpress
ProteomicsLFQ comparison of total cell lysate, lysosomal and plasma membrane fraction of WT and NPC1 KO cells
Superparamagnetic iron oxide nanoparticles (SPIONs) have so far mainly been used as cellular carriers for genes and therapeutic products, while their use in subcellular organelle isolation remains largely underexploited. We engineered surface functionalized SPIONs (Ø 10 nm) that target very distinc...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-29 | MSV000080792 | MassIVE
TranscriptomicsExpression data from brain, liver and spleen of Npc1-/- mice
Niemann-Pick Type C (NPC) disease is a rare, genetic, lysosomal disorder with progressive neurodegeneration. Poor understanding of the pathophysiology and lack of blood-based diagnostic markers are major hurdles in the treatment and management of NPC and several additional neurological, lysosomal di...
ORGANISM(S): Mus musculus 
2012-12-27 | E-GEOD-39621 | biostudies-arrayexpress
ProteomicsA trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export
Cholesterol import in mammalian cells is mediated by the LDL receptor pathway. Here, we perform a genome-wide CRISPR screen using an endogenous cholesterol reporter and identify >100 genes involved in LDL-cholesterol import. We characterise C18orf8 as a core subunit of the mammalian Mon1-Ccz1 guanid...
ORGANISM(S): Homo sapiens (Human) 
2020-10-29 | PXD021444 | Pride
Mon1 Lysosome Ccz1 Cholesterol C18orf8 Gef Npc1 Ldl Rab7 
ProteomicsProteomic signature of NPC1 KO microglia
Niemann-Pick type C (NPC) disease is a rare neurodegenerative disorder mainly caused by autosomal recessive mutations in Npc1 which result in abnormal late endosomal/lysosomal lipid storage. Although microgliosis is one of the prominent pathological features, consequences of NPC1 loss on microglial ...
ORGANISM(S): Mus musculus (Mouse) 
2021-02-09 | PXD019447 | Pride
Npc1 Niemann-pick disease Microglia Neurodegeneration 
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 
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