Phospho-PSEN2 (S330) Antibody

1. Determined whether a pathogenic mutation in the PSEN2 gene in a Korean patient was associated with early onset Alzheimer's disease. Findings revealed that the p.His169Asn might be an important residue in PSEN2, which may alter the functions of PSEN2, suggesting its potential involvement with AD phenotype. PMID: 30104866
2. The present data suggest that PS2 mutations suppress lung tumor development by inhibiting the iPLA2 activity of PRDX6 via a gamma-secretase cleavage mechanism and may explain the inverse relationship between lung cancer and Alzheimer's disease incidence. PMID: 29109765
3. The results show that in cognitively normal young adults carrying Presenelin 2 mutations had different spontaneous brain activity patterns without cerebral structural differences. PMID: 28987665
4. Presenilin 2 (PS2), mutations in which underlie familial Alzheimer's disease (FAD), promotes endoplasmic reticulum-mitochondria coupling only in the presence of mitofusin 2 (Mfn2). PMID: 27239030
5. This review reveled that Mutations in APP and PS-1 and PS-2 genes that are associated with early-onset, autosomal, dominantly inherited AD. PMID: 27135718
6. Most of the early-onset Alzheimer's disease -associated mutations have been detected in PSEN1, and several novel PSEN1 mutations were recently identified in patients from various parts of the world, including Asia. Until 2014, no PSEN2 mutations were found in Asian patients; however, emerging studies from Korea and the People's Republic of China discovered probably pathogenic PSEN2 mutations. [review] PMID: 27799753
7. Familial Alzheimer's disease Patients with PSEN2 mutations have a delayed AOO with longest disease duration and presented more frequently with disorientation. [review] PMID: 26337232
8. Study identified a unique motif in PSEN2 that directs gamma-secretase to late endosomes/lysosomes via a phosphorylation-dependent interaction with the AP-1 adaptor complex. PSEN2 selectively cleaves late endosomal/lysosomal localized substrates and generates the prominent pool of intracellular Abeta that contains longer Abeta; familial Alzheimer's disease-associated mutations in PSEN2 increased the levels of longer Ab... PMID: 27293189
9. German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. PMID: 26522186
10. Its mutation is pathogenic to early onset familial AD associated with atypical symptom presentation. PMID: 26422362
11. This study identified variants in PSEN2 across a range of phenotypes (Alzheimer's Disease , Alzheimer's Disease and cerebrovascular disease,frontotemporal dementia and progressive supranuclear palsy. PMID: 26159191
12. Its mutations of PSEN2 account for pathogenicity of early-onset familial Alzheimer's disease. PMID: 26166204
13. Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence. PMID: 25814654
14. PSEN2 mutations appeared not only in Alzheimer's Disease patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson's disease with dementia PMID: 26203236
15. Mutations in PSEN2 are relatively rare cause of the autosomal-dominant cases of Early onset familial Alzheimer Disease. PMID: 25998117
16. The results of this study showed that PSEN2 was significantly downregulated in the auditory cortex of Alzheimer's disease patients when compared to controls. PMID: 24927704
17. PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD PMID: 25323700
18. A review, representing the first attempt to systematically organize the available evidence concerning the phenotypic characteristics of familial Alzheimer's disease due to PSEN2 mutations PMID: 24594196
19. study describes a previously unrecognized sequence change (c.376G>A) in PSEN2 in an early onset Alzheimer's disease patient and her likewise affected mother PMID: 24844686
20. The loss of PS2 could have a critical role in lung tumor development through the upregulation of iPLA2 activity by reducing gamma-secretase. PMID: 24858037
21. Mutation in PSEN2 causes of early-onset familial Alzheimer's disease. PMID: 24838186
22. Levels of presenilin 2 are higher in the cerebral cortex of presenilin 1 knockout mice, suggesting a compensatory upregulation. PMID: 25429133
23. the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation revealed significant structural changes in the region PMID: 24885952
24. Alzheimer's disease pathology induced by overexpression of human mutant presenilin 2 (PS2) protein induced changes in glucose metabolism, were investigated. PMID: 23546527
25. Interactome analyses of mature gamma-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2. PMID: 23589300
26. For the Abeta40 region on chromosome 1, association of several SNPs was observed at the presenilin 2 gene (PSEN2) in 125 subjects with severe hypertension. PMID: 22872014
27. we found that the protein expression of presenilin 2 (PS2) was significantly increased in glioma tissues PMID: 22753229
28. The PSEN2 and PSEN1 genes have a very similar genetic structure and encode two proteins expressed in a multiplicity of tissues including the brain. PMID: 20594621
29. results indicate that PS2 modulates the degradation of RBP-Jk through phosphorylation by p38 MAPK. PMID: 22302987
30. analysis supports the hypothesis that the PSEN2 rs8383 polymorphism is associated with an enlarged risk of sporadic Alzheimer's disease PMID: 22580083
31. The results of this study demonstrated that upregulation of PSEN2 and the upregulation of BACE1 is an ancient, conserved, and thus selectively advantageous response to hypoxia/oxidative stress. PMID: 22045484
32. PSEN2 Arg62His mutation may lead to a phenotypic heterogeneity presenting either as Alzheimer's disease or Lewy body dementia. PMID: 21409510
33. [review] The role of presenilin 2 in general physiology and Alzheimer's disease pathology due to its mutation are discussed. PMID: 21545304
34. One distinct haploblock in PSEN2 was detected and the frequent haplotypes were analyzed using 4 tagging single nucleotide polymorphisms PMID: 20850903
35. The results of this study suggested that oxidative stress-mediated ERK activation contributes to increases in beta-secretase and, thus, an increase of Abeta generation in neuronal cells expressing mutant PS2. PMID: 22249458
36. Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake PMID: 19382908
37. The PS2 mutation causes early cerebral amyloid accumulation and memory dysfunction. PMID: 21234330
38. familial Alzheimer disease presenilin 2 protein interactions with InsP(3) receptor causes exaggerated calcium signaling that may contribute to the disease pathology by enhanced generation or reactive oxygen species PMID: 20701429
39. Presenilin 2 modulates endoplasmic reticulum-mitochondria interactions and Ca2+ cross-talk. PMID: 21285369
40. A genome scan within nine families for loci influencing age-at-onset, while simultaneously controlling for variation in the primary PSEN2 mutation (N141I) and APOE, was performed. PMID: 20333730
41. this study demonistreated that an Italian pedigree linked to a novel mutation (S175C) at the third transmembrane domain of PSEN2 in atypical alzeheimer disease. PMID: 20164579
42. A family with the N141I mutation in PSEN2 that presently lives in Germany has been connected to the haplotype that carries the same mutation in pedigrees descended from the Volga Germans. PMID: 20457965
43. a novel Arg62His Presenilin2 mutation in patient with frontotemporal dementia PMID: 19768372
44. Mutations in presenilin 2 are rarely associated with Alzheimer's disease. The best studied Asn141Iso mutation produces an Alzheimer's disease phenotype with a wide range of onset ages. PMID: 20375137
45. interaction with CALP/KChIP4 PMID: 11847232
46. PS2 mRNA is present only in lymphocytes, in contrast to PS1 mrna, which is found in both myeloid and lymphoid cells. PMID: 11987239
47. mutant presenilin 2 induces apoptosis accompanied by increased caspase-3-like activity and decreased bcl-2 expression in neuronal cells PMID: 12173418
48. PS2/gamma-secretase contains PEN-2 and requires it for presenilin expression PMID: 12198112
49. There is no evidence to suggest that variations in the PSEN2 gene pose as major risk factors for sporadic early-onset Alzheimer disease PMID: 12210343
50. in oxygen stress conditions relatively minor variations in PSEN2 promoter DNA sequence structure can enhance PSEN2 gene expression and that may play a role in the induction and/or proliferation of an inflammatory response in AD brain. PMID: 12232783

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HGNC: 9509

OMIM: 600759

KEGG: hsa:5664

STRING: 9606.ENSP00000355747

UniGene: Hs.25363