Recombinant Human Nicastrin (NCSTN), partial

1. Identification of a novel deletion mutation in exon 4 of NCSTN, which may underlie the molecular pathogenesis in this Acne inversa family. PMID: 30030622
2. A physical interaction between nicastrin (hNCT) and the gamma-secretase substrate amyloid beta-protein precursor (APPC100) confirmed the functionality of hNCT as a substrate recognizer. PMID: 28276527
3. The results show no differences in the decreased levels of inflammatory factors between patients with and without NCSTN mutations. This result may indicate that NCSTN mutations have no direct effect on inflammatory cells in the process of cytokine production. PMID: 27639175
4. The authors identified two nonsynonymous mutations in NCSTN in a white population, one of which had previously been described in African American and Chinese patients with HS. In addition, several intronic polymorphisms within the NCSTN were identified that were present at a significantly higher frequency in the HS population. PMID: 26879264
5. The results lead the investigators to speculate that NCSTN may be one of the genes determining the clinical phenotype of follicular HS . PMID: 26522179
6. Loss of function of nicastrin impacts on cell proliferation and differentiation-associated signalling pathways in a keratinocyte cell line. PMID: 26473517
7. analysis of two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobate in NCSTN PMID: 26663538
8. Case Report: large Chinese family harboring novel NCSTN mutation associated with acne inversa. PMID: 26463457
9. Nicastrin mutation is associated with schizophrenia. PMID: 27008863
10. haploinsufficiency of the NCSTN gene caused by the nonsense mutation c.1258C>T (p.Q420X) contributes to the occurrence of hidradenitis suppurativa in this family. PMID: 26224166
11. The "Lid" domain of nicastrin is not essential for regulating gamma-secretase activity. PMID: 26887941
12. SNPs in Notch pathway genes may be predictors of cutaneous melanoma disease-specific survival. PMID: 25953768
13. Tumor necrosis factor-alpha and interleukin-10 levels were elevated in acne inversa patients with nicastrin or presenilin enhancer mutation. PMID: 26067312
14. A strategy focused on MAPT, APP, NCSTN and BACE1 to build blood classifiers for Alzheimer's disease. PMID: 25863267
15. Akt1 phosphorylates NCT at Ser437, significantly reducing NCT stability. A phospho-deficient mutation in NCT at Ser437 stabilized its protein levels. PMID: 25996556
16. atomic structure of human gamma-secretase at 3.4 A resolution, determined by single-particle cryo-electron microscopy PMID: 26280335
17. We suggest that this is the first description of an NCSTN nonsense mutation causing autosomal dominant hidradenitis suppurativa in an African American family. PMID: 25693063
18. analysis of how the conformation of presenilin, Pen-2, Aph-1, and nicastrin affect the function and mechanism of gamma-secretase PMID: 25918421
19. High nicastrin expression is associated with invasive breast cancer. PMID: 25248409
20. Analysis of nicastrin structure provides insights into the assembly and architecture of the gamma-secretase complex. PMID: 25197054
21. This paper demonstrated that Nicastrin and Notch4 are key molecules involved in resistance to endocrine therapy. The data suggest that targeting Notch4 and Nicastrin is a potential approach to reverse endocrine resistance in breast cancer patients. PMID: 24919951
22. OCIAD2 also increased the interaction of nicastrin with C99 and stimulated APP processing via gamma-secretase activation, but did not affect Notch processing PMID: 24270855
23. Two heterozygous missense mutations, c.647A>C (p.Q216P) in the exon 6, and c.223G>A (p.V75I) in the exon 3 of the NCSTN gene, were identified in the two families PMID: 22759192
24. wild-type human nicastrin overexpression in transgenic mice promoted active assembly of the gamma-secretase complex through modulation of APP processing and behavior. PMID: 23595812
25. Sequencing results showed that a heterozygous single nucleotide mutation c.1258C>T in exon 11 of NCSTN PMID: 23517242
26. Generation of amyloid-beta is reduced by the interaction of calreticulin with amyloid precursor protein, presenilin and nicastrin. PMID: 23585889
27. A review of mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 and the role of gamma-secretase in cutaneous biology and, more specifically in hidradenitis suppurativa. PMID: 23096707
28. Results show that a splice site mutation in NCSTN protein, a gene encoding gamma secretase is implicated in the pathogenesis of hidradenitis suppurativa PMID: 22834455
29. Mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa). PMID: 22622421
30. Finding suggest the development of nicastrin-targeted therapies in breast cancer. PMID: 23012411
31. The gamma-secretase substrate receptor, nicastrin, was found to be modified by 4-hydroxynonenal in cultured neurons and in brain specimens from patients with Alzheimer's disease. PMID: 22404891
32. Nicastrin is an essential component in the activation of gama-selectase complex. Its physical function and molecular genetic studies have been reveiwed. PMID: 22787765
33. We therefore conclude that it is unlikely that common variation at the NCSTN locus is a risk factor for Alzheimer's disease. PMID: 22405046
34. SGK1 is a gamma-secretase regulator presumably effective through phosphorylation and degradation of NCT. PMID: 22590650
35. Data suggest that nicastrin functions as a "substrate receptor" within the gamma-secretase complex. PMID: 22586122
36. We found three new mutations in nicastrin in hidradenitis suppurativa in French families. PMID: 22358060
37. Data suggest that nicastrin (NCT) is a molecular target for the mechanism-based inhibition of gamma-secretase. PMID: 21725355
38. Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization. PMID: 22086926
39. The Nicastrin ectodomain has an exceptionally high propensity to refold after thermal denaturation. PMID: 21848507
40. The pathogenic nature of these two mutations provides further evidence that the NCSTN gene is the disease gene of acne inversa PMID: 21495993
41. confirmed the gene NCSTN is responsible for acne inversa by combining exome sequencing with previous genome-wide linkage analysis PMID: 21430701
42. Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer's disease. PMID: 21364883
43. NCSTN and PSENEN, are involved in the pathogenesis of some familial hidradenitis suppurativa (Acne Inversa). PMID: 21412258
44. Nicastrin can function to maintain epithelial to mesenchymal transition during breast cancer progression. PMID: 20224929
45. study found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN in 6 Chinese acne inversa (AI) families; results identify the gamma-secretase component genes as culprits for a subset of familial AI PMID: 20929727
46. Reduction in amyloid deposits is found in the forebrain of transgenic mice expressing S-palmitoylation-deficient nicastrin. PMID: 21123562
47. Results indicate that the rs10752637 single-nucleotide polymorphism can likely influence the expression of nicastrin, and that this may be an influencing factor during the pathogenesis of Alzheimer's disease. PMID: 19840113
48. nicastrin does not display aminopeptidase M- and B-like activities PMID: 11726200
49. cell surface accumulation caused by presenilin 1 PMID: 11943765
50. The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample PMID: 11992262

Show More

Hide All

HGNC: 17091

OMIM: 142690

KEGG: hsa:23385

STRING: 9606.ENSP00000294785

UniGene: Hs.517249