NPC1 Antibody

1. 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). PMID: 30181526
2. These data support the hypothesis that cholesterol is transported through interactions between two or more NPC1 molecules. PMID: 30047864
3. Mutation in the NPC1 gene is associated with Niemann-Pick type C. PMID: 28167839
4. 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. PMID: 28134274
5. 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. PMID: 28784760
6. This study demonistrated that heterozygous mutations of NPC1 genes could contribute to dementia plus, at least in a subset of patients. PMID: 27792009
7. 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. PMID: 27551080
8. Taken together, these studies suggest that Ebola virus requires phosphatidylinositol (3,5) bisphosphate production in cells to promote efficient delivery to NPC1. PMID: 29031163
9. 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. PMID: 27339554
10. 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. PMID: 27307437
11. 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 PMID: 28328115
12. this case provides support for the V950M variant being sufficient for adult-onset Niemann-Pick type C disease. PMID: 27900365
13. 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. PMID: 26890452
14. 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. PMID: 28193631
15. 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). PMID: 27378690
16. 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 PMID: 28472934
17. Rare loss-of-function NPC1 mutations were identified as being associated with human adiposity with a high penetrance in a Chinese population. PMID: 28130309
18. 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 PMID: 27095633
19. Two mutations were identified in the NPC1 gene, one of which was novel and its pathogenetic nature was unknown PMID: 26790753
20. Our data suggest an incidence rate for NPC1 and NPC2 of 1/92,104 and 1/2,858,998, respectively. Evaluation of common NPC1 variants, however, suggests that there may be a late-onset NPC1 phenotype with a markedly higher incidence. PMID: 25764212
21. Fibroblasts from Niemann-Pick type C (NPC) disease patients with low levels of NPC1 protein have high amounts of procathepsin D but reduced quantities of the mature protein, thus showing a diminished cathepsin D activity. PMID: 26507101
22. Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders. PMID: 25771912
23. NPC1 mutations are substantially enriched in unexplained early onset ataxia, making it high risk group for Niemann-Pick disease type C. PMID: 26338816
24. these results clearly demonstrated that the over-expression of NPC1 with a defective function in an imatinib-resistant Ph+ acute lymphoblastic leukemia cell line PMID: 26818574
25. Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions PMID: 26846330
26. Study determined the crystal structure of the primed GP (GPcl) of Ebola virus bound to domain C of NPC1 (NPC1-C); NPC1-C utilizes two protruding loops to engage a hydrophobic cavity on head of GPcl. Upon enzymatic cleavage and NPC1-C binding, conformational change in the GPcl further affects the state of the internal fusion loop, triggering membrane fusion. PMID: 26771495
27. Here, using live cell imaging, the authors obtained evidence that in contrast to the new model, ebolavirus enters cells through endolysosomes that contain both NPC1 and TPC2. PMID: 26468524
28. These experiments support a model in which NPC1 protein functions to transfer cholesterol past a lysosomal glycocalyx. PMID: 26578804
29. An isobaric labeling-based quantitative analysis of proteome of NPC1(I1061T) primary fibroblasts when compared with wild-type cells identified 281 differentially expressed proteins based on stringent data analysis criteria, is reported. PMID: 25873482
30. NPC1 gene sequencing revealed that he was a compound heterozygote for the p.S954L and p.N1156S mutations. PMID: 25238906
31. results uncover Akt as a key regulator of NPC1 degradation and link NPC1 to cancer cell proliferation and migration. PMID: 26283546
32. heterozygous mutations in the NPC1/2 gene might be a risk factor for Alzheimer's disease PMID: 25220527
33. In a transgenic mouse model, human NPC1 disease was faithfully recapitulated in a NPC1 I1061T mutation knock-in model. PMID: 26019327
34. This study showed that Niemann-Pick C1 (NPC1), is required for Lloviu virus (LLOV) entry, suggesting that receptor binding would not impose a barrier to LLOV infection. PMID: 25310500
35. Data suggest that in order for the ligand cholesterol to slide from one binding pocket to the other (from NPC2 to NPC1), cholesterol undergoes conformational change/isomerization to accommodate the bent transfer pathway between the 2 binding pockets. PMID: 25251378
36. A novel NPC1 mutation causing the Niemann-Pick type C disease and segregating to a Greek island has been identified. PMID: 23701245
37. twelve individuals were subsequently confirmed to be NP-C by DNA analysis of NPC1 and NPC2 genes, with the early infantile form, the late infantile form, the juvenile form, and the adult form PMID: 24915861
38. elevated mitochondrial cholesterol levels in NPC1-depleted cells and in NPC2-depleted cells expressing mutant NPC2 that allows endosomal cholesterol trafficking to mitochondria were associated with increased expression of antioxidant response factor Nrf2 PMID: 24790103
39. role of NPC1 in regulating intracellular cholesterol trafficking and atherosclerosis. PMID: 24296264
40. These findings show that the AD-like phenotype of NPC model cells can be partly reverted by promoting a non-amyloidogenic processing of APP through the upregulation of GGA1 supporting its preventive role against AD PMID: 24866237
41. The minor G allele frequency of the rs1788799 polymorphisms in NPC1 might be a protective factor while the rs3764650 polymorphisms of ABCA7 might not be related to sporadic Alzheimer's disease in the Han Chinese population. PMID: 24064683
42. the NPC1 promoter methylation is a probable mechanism that can result in reduced/impaired NPC1 expression/activity and may thus contribute to progression of cardiovascular diseases. PMID: 23567849
43. Case Report: loss of NPC1 function, with attendant changes in membrane cholesterol composition, does not significantly modify the insulin resistance phenotype, even in the context of severely impaired INSR function. PMID: 20521171
44. an atomistic model is proposed of the transfer of cholesterol from NPC2 to NPC1(NTD) through the formation of an intermediate NPC1(NTD)-NPC2 complex PMID: 24001314
45. there is an additional sterol-binding site on NPC1 PMID: 23521797
46. Treatment of NPC1-null or NPC2-deficient cells with cyclodextrin was effective in reducing cholesterol storage as well as the endocytic accumulation of sialoglycoproteins, demonstrating a direct link between cholesterol storage and abnormal recycling. PMID: 23733943
47. lack of Npc1 protein can alter the expression profile of selected transcripts as well as proteins, and APP overexpression influences cerebral pathology by enhancing changes triggered by Npc1 deficiency in the bigenic line. PMID: 23382922
48. Neuron-only expression of NPC1 does not completely prevent neurodegeneration; the addition of astrocyte expression decreases the rate of decline. PMID: 22495346
49. 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 PMID: 23010472
50. Characterization of novel chromosomal microdeletions at 18q11-q12 involving the NPC1 gene in two patients with Niemann-Pick type C disease. PMID: 23142039

Show More

Hide All

HGNC: 7897

OMIM: 257220

KEGG: hsa:4864

STRING: 9606.ENSP00000269228

UniGene: Hs.464779