PSENEN Antibody

1. High gamma-secretase expression is associated with head and neck squamous cell carcinoma. PMID: 29047105
2. APP substrate occupancy of these three pockets of gamma-secretase occurs after initial substrate binding but precedes catalysis, suggesting a conformational change in substrate may be required for cleavage. PMID: 27580372
3. PSENEN mutations can indeed cause a comanifestation of Dowling-Degos disease and acne inversa (AI) that is likely triggered by predisposing factors for AI. PMID: 28287404
4. zinc, copper inhibited Abeta production by directly targeting the subunits presenilin and nicastrin in the gamma-secretase complex PMID: 28096459
5. PSENEN may play a crucial role in the progression of atopic dermatitis by participating in the Notch signaling pathway. PMID: 26967585
6. Remarkably, PEN-2 was identified besides nicastrin as additional substrate-binding subunit. PMID: 27220847
7. Results suggest deltaOR-Phe27Cys variation modulates beta- and gamma-secretase activity in late-stage Alzheimer's disease likely via post-translational mechanisms PMID: 26402014
8. TRPC6 specifically interacts with APP leading to inhibition of its cleavage by gamma-secretase and reduction in Abeta production. PMID: 26581893
9. secondary mutations in presenilin 1 alone activated the gamma-secretase activity. PMID: 26559975
10. Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence PMID: 25814654
11. Data indicate that familial Alzheimer's disease (FAD) and control brain samples had similar overall gamma-secretase activity levels, and therefore, loss of overall (endopeptidase) gamma-secretase function cannot be an essential part of the pathogenic mechanism. PMID: 26481686
12. We for the first time identify PEN-2 as the causative gene of familial comedones. PMID: 26044244
13. The first hydrophobic domain of Pen-2 forms a structure similar to a reentrant loop while the second hydrophobic domain spans the lipid bilayer. PMID: 26296997
14. shedding of BCMA by gamma-secretase controls plasma cells in the bone marrow and yields a potential biomarker for B-cell involvement in human autoimmune diseases PMID: 26065893
15. Tumor necrosis factor-alpha and interleukin-10 levels were elevated in acne inversa patients with nicastrin or presenilin enhancer mutation. PMID: 26067312
16. SLC2A13 is a novel gamma-secretase associated protein that regulates amyloid beta production without affecting Notch cleavage. PMID: 26094765
17. Brain proteins showing neuron-specific interactions with gamma-secretase PMID: 25893612
18. A complete inhibition of PS1-induced apoptosis was achieved by knockdown of PS1-associated protein (PSAP), a mitochondrial proapoptotic protein that forms a complex with Bax upon induction of apoptosis, in the presence of gamma-secretase inhibitor. PMID: 26025363
19. analysis of how the conformation of presenilin, Pen-2, Aph-1, and nicastrin affect the function and mechanism of gamma-secretase PMID: 25918421
20. Mutation of on PS1 and PS2 AXXXAXXXG motifs strongly impacts gamma-secretase activity. PMID: 25614624
21. The catalytic subunit of gamma-secretase is presenilin 1 (PS1), which contains an initial substrate-binding site that is distinct from the catalytic site PMID: 25673856
22. Recombinant human Pen-2 fusion protein was purified from bacteria to >95% purity. PMID: 24865334
23. Together, our results suggest that iron can increase gamma-secretase activity through promoting the level of FTL that interacts with and stabilizes PEN-2/ PMID: 23685131
24. 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
25. Allele A of Pen 2 gene may increase the risk of late onset Alzheimer's disease. PMID: 23134962
26. a 269 bp region located between the PSENEN and U2AF1L4 human genes is a genuine bidirectional promoter regulating a concerted divergent transcription of these genes. PMID: 23246698
27. Mutations in the gamma-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa). PMID: 22622421
28. The molecular state of gamma-secretase and its enzymological characteristics are described. PMID: 22787762
29. secretase subunits restrict the arrangement of the transmembrane domains of presenilin during the formation of the functional structure of the catalytic pore. PMID: 22689582
30. Studies indicate that gradual saturation of gamma-secretase with its substrate can be the pathogenic process in different alleged causes of Alzheimer's disease (AD). PMID: 22479317
31. expression of calsenilin leads to a disruption of presenilin 1/gamma-secretase-mediated epsilon-cleavage of N-cadherin, which results in the significant accumulation of N-cadherin C-terminal fragment 1 PMID: 21852538
32. NCSTN and PSENEN, are involved in the pathogenesis of some familial hidradenitis suppurativa (Acne Inversa). PMID: 21412258
33. structural analysis of PEN-2 conformation by single-particle electron microscopy PMID: 21454611
34. This study support a gamma-secretase-independent role of presenilin-1 in modulation of filamin-mediated actin cytoskeleton. PMID: 20847418
35. 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
36. Data show that intramembranous cleavage by gamma-secretase and related intramembrane-cleaving proteases may generally occur via stepwise endoproteolysis. PMID: 20534834
37. Hematopoietic gamma-secretase has reduced activity for APP and Notch1 processing compared to epithelial gamma-secretase. PMID: 20178366
38. Transactivation of the Pen2 promoter by presenilin 1/2 is p53-dependent. PMID: 19889971
39. a component of the gamma-secretase complex PMID: 12198112
40. role in regulating proteolytic processing of presenilin 1 in conjunction with APH-1 PMID: 12522139
41. examination of membrane topology PMID: 12639958
42. APH-1 stabilizes the presenilin holoprotein in the complex, whereas PEN-2 is required for endoproteolytic processing of presenilin and conferring gamma-secretase activity to the complex. PMID: 12660785
43. Expression of PEN2 increases amyloid beta peptide levels and gamma-secretase activity. PMID: 12763021
44. presenilin 1 (PS1)-derived fragments, mature nicastrin, APH-1, and PEN-2, associate with cholesterol-rich detergent insoluble membrane (DIM) domains of non-neuronal cells and neurons PMID: 15322084
45. the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes PMID: 15322109
46. The presenilin-subunit stabilizing function of PEN-2 depends on length and overall sequence of its carboxyl-terminal domain. PMID: 15953349
47. knockdown of ubiquilin-1 and -2 protein expression by RNAi (RNA interference) increased Pen-2 and nicastrin levels PMID: 15975090
48. mutational analyses revealed that the "NF" sequence within the TMD4 of PS1 is the minimal motif that is required for binding with PEN-2, promoting PS1 endoproteolysis and gamma-secretase activity PMID: 16234243
49. Pen-2 may contribute to the activation of the gamma-secretase complex by directly binding to the TMD4 of PS1 PMID: 16234244
50. COX-2 may be a downstream effector of mutant N141I PS2-mediated apoptotic cell death and that inhibition of COX-2 may neuroprotect in AD through modulation of a GSK-3beta-beta-catenin-mediated response. PMID: 16331303

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HGNC: 30100

OMIM: 607632

KEGG: hsa:55851

STRING: 9606.ENSP00000222266

UniGene: Hs.534465