Niemann-Pick Disease, Type C1 (NPC1) Kits ELISA

NPC1 encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. De plus, nous expédions NPC1 Anticorps (87) et NPC1 Protéines (10) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
NPC1 18145 O35604
NPC1 4864 O15118
Anti-Rat NPC1 NPC1 266732  
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Catalogue No. Reactivité Sensibilité Gamme Images Quantité Fournisseur Livraison Prix Détails
Souris 7.81 pg/mL 31.25-2000 pg/mL Typical standard curve 96 Tests Connectez-vous pour afficher 15 to 18 Days
  96 Tests Connectez-vous pour afficher 15 to 18 Days
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Humain < 0.094 ng/mL 0.156 ng/mL - 10 ng/mL   96 Tests Connectez-vous pour afficher 11 to 18 Days

Plus Kits ELISA pour NPC1 partenaires d'interaction

Zebrafish Niemann-Pick Disease, Type C1 (NPC1) interaction partners

  1. this is the first report, showing a role of NPC1 in platelet function and formation but further studies are needed to define how cholesterol storage interferes with these processes

  2. npc1 is required early for proper cell movement and cholesterol localization and later for cell survival

Rabbit Niemann-Pick Disease, Type C1 (NPC1) interaction partners

  1. Availability of assays to measure NPC1 binding to membrne proteins may further the understanding of ways in which oxysterols regulate intracellular lipid transport.

Mouse (Murine) Niemann-Pick Disease, Type C1 (NPC1) interaction partners

  1. Mutation in the NPC1 gene is associated with Niemann-Pick type C.

  2. This study shown Microglia can aggravate olfactory dysfunction by mediating neuronal death in the olfactory bulb (OB) of a murine model of Niemann-Pick disease type C1 (NPC1)

  3. High-resolution respirometry analyses revealed that GSH-EE improved oxidative phosphorylation, coupled respiration and maximal electron transfer in cerebellum of Npc1(-/-) mice

  4. Lysosomal oxLDL accumulation within macrophages contributes to murine atherosclerosis. Prevention of oxLDL uptake leads to decreased atherosclerosis in hematopoietic NPC1-deficient Ldlr(-/-) mice

  5. the spleen is significantly enlarged in Npc1(-/-) mice.

  6. Study is the first data to reveal motor and behavioral deficits in early maturity of Npc1+/- mice.

  7. Npc1 gene interacts with a high fat diet to promote weight gain through differential regulation of central energy metabolism pathways.

  8. AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, and increased the lifespan of NPC1(-/-) mice. Our work suggests that AAV-based gene therapy is a promising means to treat NPC disease.

  9. Here, we identify lamellar inclusions as the subcellular site of lipid accumulation in neurons, we uncover a vicious cycle of cholesterol synthesis and accretion, which may cause gradual neurodegeneration, and we reveal how beta-cyclodextrin, a potential therapeutic drug, reverts these changes. Our study provides new mechanistic insight in NPC disease and uncovers new targets for therapeutic approaches.

  10. Male NPC1+/- mice had increased fat storage while eating a high-fat diet.

  11. Our data show that: i) HDAC2 levels and activity are increased in NPC neuronal models and in Npc1(-/-) mice; ii) inhibition of c-Abl or c-Abl deficiency prevents the increase of HDAC2 protein levels and activity in NPC neuronal models

  12. activation of the alternative pathway is involved in Niemann-Pick C1 associated pulmonary macrophage accumulation, with low proliferation of these cells balanced by low levels of apoptosis.

  13. This study showed that deleting the Npc1 gene is accompanied by an increase in germ cell apoptosis and compensatory imbalances in the expression of cholesterol enzymatic and transporter factors.

  14. These results show that NPC1 is critical for ebolavirus replication and pathogenesis in animals.

  15. abnormal neuronal expression of matrix metalloproteinase-12 may contribute to axonal degeneration in Niemann-Pick type C disease

  16. There was a transient increase in biliary cholesterol concentration in Npc1(-/-) mice.

  17. data suggest that aberrant expression of Pcdhs is a pathological process accompanied by neurodegeneration in Npc1 mutant mice

  18. This study deministrated that lack of NPC1 in either neurons or glial cells did not affect the excitability of Purkinje cells, the formation of dendrites or their excitatory synaptic activity.

  19. Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.

  20. These data show that cholesterol homeostasis through NPC1 plays a crucial role in maintaining insulin action at multiple levels in adipocytes.

Human Niemann-Pick Disease, Type C1 (NPC1) interaction partners

  1. mutant NPC1 degradation is regulated by selective endoplasmic reticulum autophagy and MARCH6-dependent endoplasmic-reticulum-associated degradation

  2. NPC1 gene variations may predispose to common metabolic diseases by modulating steroid hormone synthesis and/or lipid homeostasis.

  3. Results propose that, depending on the location of the cholesterol ligand, a dynamical interface between the NPC2 and NPC1 N-terminal domain (NTD) proteins exists. Structural features of a particular interface can lower the energy barrier and stabilize the passage of the cholesterol substrate from NPC2 to NPC1(NTD).

  4. These data support the hypothesis that cholesterol is transported through interactions between two or more NPC1 molecules.

  5. Mutation in the NPC1 gene is associated with Niemann-Pick type C.

  6. pronounced alterations in several proteins linked to autophagy and lysosomal catabolism reflecting vesicular transport obstruction and defective lysosomal turnover resulting from NPC1 deficiency, were observed.

  7. Niemann-Pick C1 (NPC1) protein structures suggest mapping of all of the disease-causing mutations for future molecular insights into the pathogenesis of Niemann-Pick type C disease (NPC) disease.

  8. This study demonistrated that heterozygous mutations of NPC1 genes could contribute to dementia plus, at least in a subset of patients.

  9. Docking of the NPC1-NPC2 complex onto the full-length NPC1 structure reveals a direct cholesterol transfer tunnel between NPC2 and N-terminal domain cholesterol binding pockets, supporting the "hydrophobic hand-off" cholesterol transfer model.

  10. Taken together, these studies suggest that Ebola virus requires phosphatidylinositol (3,5) bisphosphate production in cells to promote efficient delivery to NPC1.

  11. identification of NPC1 and/or NPC2 mutations combined with descriptions of clinical phenotype, will improve our knowledge of pathogenic mutations and our understanding of genotype-phenotype correlations.

  12. Here we report a crystal structure of a large fragment of human NPC1 at 3.6 A resolution, which reveals internal twofold pseudosymmetry along TM 2-13 and two structurally homologous domains that protrude 60 A into the endosomal lumen, and we propose a model for NPC1 function in cholesterol sensing and transport.

  13. Sequencing of genomic DNA from GM03123 Led to the identification of a mutation in NPC1 GENE, g.41940G>C (c.1947 + 5G>C; rs770321568) (Fig. 1A), with a minor allele frequency of 0.0000082

  14. this case provides support for the V950M variant being sufficient for adult-onset Niemann-Pick type C disease.

  15. We identified major events in NPC1 evolution and revealed and compared orthologs and paralogs of the human NPC1 gene through phylogenetic and protein sequence analyses. We predicted whether an amino acid substitution affects protein function by reducing the organism's fitness.

  16. The mutant NPC1 did not significantly reduce cholesterol accumulation, but approximately 85% of the mutants showed reduced cholesterol accumulation when treated with vorinostat or panobinostat.

  17. knockdown of TMEM97 also increases levels of residual NPC1 in NPC1-mutant patient fibroblasts and reduces cholesterol storage in an NPC1-dependent manner. Our findings propose TMEM97 inhibition as a novel strategy to increase residual NPC1 levels in cells and a potential therapeutic target for Niemann-Pick type C disease (NP-C).

  18. The splicing mutation IVS23 + 3insT was associated in homozygocity with a severe biochemical and clinical phenotype. A possible founder effect for this mutation was demonstrated in the Greek Island, as well as a different origin for each novel mutation

  19. Rare loss-of-function NPC1 mutations were identified as being associated with human adiposity with a high penetrance in a Chinese population.

  20. Furthermore saturation and intracellular distribution of alpha-Toc seem to be strongly dependent on the availability of this vitamin as well as on the presence of the lysosomal protein NPC1

NPC1 profil antigène

Antigen Summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.

Gene names and symbols associated with NPC1

  • NPC intracellular cholesterol transporter 1 (NPC1) anticorps
  • Niemann-Pick disease, type C1 (npc1) anticorps
  • Niemann-Pick C1 protein (LOC579887) anticorps
  • NPC intracellular cholesterol transporter 1 (Npc1) anticorps
  • A430089E03Rik anticorps
  • C85354 anticorps
  • Cdig2 anticorps
  • D18Ertd139e anticorps
  • D18Ertd723e anticorps
  • im:7149020 anticorps
  • lcsd anticorps
  • nmf164 anticorps
  • NPC anticorps
  • spm anticorps
  • wu:fb53a12 anticorps
  • wu:fc29a12 anticorps

Protein level used designations for NPC1

Niemann-Pick C1 protein , Niemann-Pick type C1 disease protein , Nasopharyngeal carcinoma 1 , Niemann-Pick C1 , Niemann-Pick disease, type C1 , sphingomyelinosis , Niemann-Pick C disease protein

403698 Canis lupus familiaris
455338 Pan troglodytes
493693 Felis catus
553330 Danio rerio
579887 Strongylocentrotus purpuratus
100008746 Oryctolagus cuniculus
18145 Mus musculus
4864 Homo sapiens
397591 Sus scrofa
421076 Gallus gallus
266732 Rattus norvegicus
100718604 Cavia porcellus
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