Property Summary

NCBI Gene PubMed Count 189
PubMed Score 585.18
PubTator Score 370.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
adult high grade glioma -1.100 2.0e-03

Protein-protein Interaction (8)

Gene RIF (131)

PMID Text
26522186 German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
26422362 Its mutation is pathogenic to early onset familial AD associated with atypical symptom presentation.
26203236 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
26166204 Its mutations of PSEN2 account for pathogenicity of early-onset familial Alzheimer's disease.
26159191 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.
25998117 Mutations in PSEN2 are relatively rare cause of the autosomal-dominant cases of Early onset familial Alzheimer Disease.
25814654 Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence.
25614624 Mutation of on PS1 and PS2 AXXXAXXXG motifs strongly impacts gamma-secretase activity.
25429133 Levels of presenilin 2 are higher in the cerebral cortex of presenilin 1 knockout mice, suggesting a compensatory upregulation.
25323700 PSEN2 mutations are common in the Chinese Han population with a history of AD and FTD
24927704 The results of this study showed that PSEN2 was significantly downregulated in the auditory cortex of Alzheimer's disease patients when compared to controls.
24885952 the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation revealed significant structural changes in the region
24858037 The loss of PS2 could have a critical role in lung tumor development through the upregulation of iPLA2 activity by reducing gamma-secretase.
24844686 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
24838186 Mutation in PSEN2 causes of early-onset familial Alzheimer's disease.
24704512 evaluation of contribution of mutations in PS1 and PS2 genes to familial early-onset Alzheimer's disease (EOAD) cases and sporadic late-onset AD; identified 1 novel frameshift mutation in PS1 gene and 2 novel frameshift mutations in PS2 gene; mutational analysis reports a correlation between clinical symptoms and PS1 and PS2 genetic factors in EOAD
24650794 Its mutation is the major causes of eraly-onset familial Alzheimer's disease.
24594196 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
24145027 At the transcriptional level, PSEN1/2 removal induced cyclic AMP response element-binding protein (CREB)/CREB-binding protein binding.
23884042 Functional disruption of the DMN occurs early in the course of autosomal dominant Alzheimer disease, beginning before clinically evident symptoms, and worsening with increased impairment.
23589300 Interactome analyses of mature gamma-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2.
23546527 Alzheimer's disease pathology induced by overexpression of human mutant presenilin 2 (PS2) protein induced changes in glucose metabolism, were investigated.
22872014 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.
22755192 Current findings established the involvement of APP, PS1, and PS2 in familial case of Alzheimer disease, while APO polymorphism suggests the existence of other unknown genetic factors or risk factors in the cause of this disease.
22753229 we found that the protein expression of presenilin 2 (PS2) was significantly increased in glioma tissues
22580083 analysis supports the hypothesis that the PSEN2 rs8383 polymorphism is associated with an enlarged risk of sporadic Alzheimer's disease
22503161 Here we report a frequency of 11.2% of mutations and variants in the known Alzheimer disease genes in the dementia cohort studied and 24% in the early onset subgroup of patients
22312439 Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset Alzheimer's disease
22302987 results indicate that PS2 modulates the degradation of RBP-Jk through phosphorylation by p38 MAPK.
22249458 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.
22074918 the PS1 complex is only marginally less active than the PS2 complex in Abeta production.
22045484 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.
22027014 The results of this study demonistrated that common variants at AbetaPP, PSEN1, and PSEN2 and MAPT are unlikely to make strong contributions to susceptibility for late onset Alzheimer's disease.
21959359 the PSEN1, PSEN2, and APP genes exhibited no pathogenic mutations in our cohort of early-onset Alzheimer disease and frontotemporal lobar degeneration patients
21914807 Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and gamma-secretase complex stabilization
21545304 [review] The role of presenilin 2 in general physiology and Alzheimer's disease pathology due to its mutation are discussed.
21409510 PSEN2 Arg62His mutation may lead to a phenotypic heterogeneity presenting either as Alzheimer's disease or Lewy body dementia.
21285369 Presenilin 2 modulates endoplasmic reticulum-mitochondria interactions and Ca2+ cross-talk.
21234330 The PS2 mutation causes early cerebral amyloid accumulation and memory dysfunction.
20850903 One distinct haploblock in PSEN2 was detected and the frequent haplotypes were analyzed using 4 tagging single nucleotide polymorphisms
20850903 Observational study of gene-disease association. (HuGE Navigator)
20701429 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
20677014 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20594621 The PSEN2 and PSEN1 genes have a very similar genetic structure and encode two proteins expressed in a multiplicity of tissues including the brain.
20468060 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20457965 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.
20375137 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.
20333730 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.
20164579 this study demonistreated that an Italian pedigree linked to a novel mutation (S175C) at the third transmembrane domain of PSEN2 in atypical alzeheimer disease.
20009122 Mutations of the genes for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are responsible for development of the disease in 50 percent of patients with FAD.
20008660 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19889971 Transactivation of the Pen2 promoter by presenilin 1/2 is p53-dependent.
19834068 Data show that presenilins 1 and 2 are highly enriched in a subcompartment of the endoplasmic reticulum associated with mitochondria that forms a physical bridge between the two organelles.
19768372 a novel Arg62His Presenilin2 mutation in patient with frontotemporal dementia
19573580 The PSEN2 regulatory region includes two separate promoters modulated by Egr-1, a transcription factor involved in learning and memory. Differential Psen2 regulation in human and mouse has implications for Alzheimer disease mouse models.
19382908 Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake
19276543 In PSEN2, T122P and M239V mutations presented with severe behavioral disturbances
19073399 Three-year follow-up of a patient with early onset Alzheimer disease with PSEN2 mutation- case report and review of the literature.
19036728 equilibrium of PS1- and PS2-containing active complexes is dynamic and altered by overexpression of Pen2 or PS1 mutants and that formation of PS2 complexes is positively correlated with increased Abeta42:Abeta40 ratios
18854154 Knockdown of presenilin 2 (Alzheimer disease 4, PSEN2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18842294 Observational study of gene-disease association. (HuGE Navigator)
18727676 In vitro expression of a new PSEN2 missense mutation (V393M) cDNA from a patient with early-onset dementia did not result in detectable increase of the secreted Abeta42/40 peptide ratio.
18667258 Observational study of gene-disease association. (HuGE Navigator)
18591429 SERCA activity is diminished in fibroblasts lacking both PS1 and PS2 genes, despite elevated SERCA2b steady-state levels.
18427071 description of an Italian family with hereditary dementia associated with a novel mutation in the presenilin 2 gene (A85V mutation)
18350357 We reort a late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.
18293935 Mature integrin beta1 with increased expression level is delivered to the cell surface, which results in an increased cell surface expression level of mature integrin beta 1 in presenilin (PS)1 and PS2 double-deficient fibroblasts.
18283638 Most signet ring cell carcinomas and adenocarcinomas of the urinary bladder expressed ps2 peptide.
18087668 We examined association between AD and PSEN2 polymorphisms located in two 5'UTR regions
18087668 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17903177 HMGA1a is a sequence-specific RNA-binding factor causing sporadic Alzheimer's disease-linked exon skipping of presenilin-2 pre-mRNA
17727891 It is concluded that in the Northern Han Chinese population, the +A/-A polymorphism of the PSEN2 promoter is a moderate genetic risk factor for developing SAD, independent of the APOE epsilon4 allele.
17727891 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17614368 We found that the mutant polypeptides were unable to bind ubiquilin, suggesting that loss of ubiquilin interaction leads to destabilization of presenilin polypeptides.
17560791 all known gamma-secretase complexes are active in APP processing and that all combinations of APH-1 variants with either familial Alzheimer mutant PS1 or PS2 support pathogenic Abeta(42) production
17412506 Observational study of gene-disease association. (HuGE Navigator)
17401676 presenilin 2 overexpression may facilitate assembly into the more active gamma-secretase complex
17401156 Exogenous cholesterol and compartmentalization in neuroblastoma cells play a relevant role in regulating the transcription of presenilin 2.
17345043 Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease.
17268505 mutations in Alzheimer disease (Review)
17268504 reduced presenilin proteolytic function leads to increased Abeta42/Abeta40 in Alzheimer disease (Review)
16620965 Familial Alzheimer's disease (FAD)-linked Presenilin mutants lower the Ca(2+) content of intracellular stores.
16474849 in breast cancer cases two germline alterations, R62H and R71W, in presenilin-2 (PS-2)
16423463 Observational study of gene-disease association. (HuGE Navigator)
16375654 mechanisms by which presenilin 2 affects the programmed cell death include the role of the proteolytically derived presenilin fragments generated by both presenilinase- and caspases
16258850 identification of genes whose expression is modulated by overexpression of mutant presenilin-2 in transgenic mice
16233903 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16135086 endoproteolysis, N and C terminal fragment interactions, and the assembly and activity of gamma-secretase complexes are very conserved between PS1 and PS2
16014629 Presenilin (PS)1 mutations interfere with PS2-mediated activity by reducing PS2 fragments
15975068 Observational study of genotype prevalence. (HuGE Navigator)
15951428 Wild-type PS2 transgenes expressed in the mouse CNS support little Abeta40 or Abeta42 production.
15776278 Of the nine pathogenic mutations found in 12 cases, three were in APP, one in PSEN2, and five in PSEN1, including two novel Greek mutations (L113Q and N135S) in Alzheimer disease
15755689 In fibroblasts from familial Alzheimer's disease the presenilin 2 mutation Thr122Arg reduces both Ca2+ release from and capacitative Ca2+ entry to intracellular stores, revealing a modulatory role in disease pathogenesis.
15663477 Four verified PS2 familial Alzheimer disease(FAD) mutations cause substantial changes in the Abeta 42/40 ratio, like PS1 mutations that cause very-early-onset FAD and may represent partial loss of function mutations
15629423 knock down of anterior pharynx defective 1 homolog A (APH-1A), but not APH-1b, resulted in impaired maturation of nicastrin and reduced expression of presenilin 1, presenilin 2, and PEN-2 proteins
15591316 dimeric (NCSTN/APH-1) and trimeric (NCSTN/APH-1/PS1) intermediates of gamma-secretase complex assembly are retained within the ER and incorporation of the fourth binding partner (PEN-2) also occurs on immature NCSTN.
15537629 results suggest that the proximal two-thirds of the PEN-2 TMD1 is functionally important for endoproteolysis of PS1 holoproteins and the generation of PS1 fragments, essential components of the gamma-secretase complex
15006697 Ca(2+) release from intracellular stores was significantly reduced in fibroblasts from familial Alzheimer patients with presenilin 2 mutations.
15004330 HeLa cells overexpressing both PS2 and ubiquilin-1 had PS2 mRNA levels lower than HeLa cells overexpressing PS2 alone, indicating that ubiquilin-1 overexpression, in fact, decreases PS2 transcription.
14769392 Observational study of genotype prevalence. (HuGE Navigator)
14741365 IMP1 is a bi-aspartic polytopic protease capable of cleaving transmembrane proteins such as presenilin 2.
14577603 identification of two novel spliced presenilin 2 transcripts in lymphocytes and brain under oxidant stress
12925374 Observational study of genotype prevalence. (HuGE Navigator)
12925374 a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease. The variation in the age at onset confirms that PSEN2 mutations are associated with variable clinical expression.
12885769 presenilins are multifunctional proteins with catalytic activity as well as roles in the generation, stabilization, and transport of the gamma-secretase complex
12846562 In vitro characterization of the presenilin-dependent gamma-secretase complex using a novel affinity ligand
12817569 Observational study of genotype prevalence. (HuGE Navigator)
12770698 Observational study of gene-disease association. (HuGE Navigator)
12770698 the current study does not support the notion that the polymorphism in the PS2 gene constitutes a risk factor for either late-onset or early-onset AD
12605888 Overexpression of either wild type or mutant presenilin 2 in various cell lines does not directly induce apoptosis or increase the susceptibility to apoptosis.
12556443 C-terminal fragment-PS2 could exhibit some of its functions in the absence of the presenilin 2 N-terminal fragment (NTF-PS2) counterpart derived from the presenilinase cleavage.
12471034 presenilin binds to APH-1, which plays a role in the maturation of presenilin-nicastrin complexes
12403846 Transcriptional synergism on the pS2 gene promoter between a p160 coactivator and estrogen receptor-alpha depends on the coactivator subtype, the type of estrogen response element, and the promoter context.
12232783 Observational study of gene-disease association. (HuGE Navigator)
12232783 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.
12210343 Observational study of gene-disease association. (HuGE Navigator)
12210343 There is no evidence to suggest that variations in the PSEN2 gene pose as major risk factors for sporadic early-onset Alzheimer disease
12198112 PS2/gamma-secretase contains PEN-2 and requires it for presenilin expression
12173418 mutant presenilin 2 induces apoptosis accompanied by increased caspase-3-like activity and decreased bcl-2 expression in neuronal cells
12058025 interaction with GFAP epsilon
12048259 regulation by nicastrin and role in determining amyloid beta-peptide production via complex formation
11987239 PS2 mRNA is present only in lymphocytes, in contrast to PS1 mrna, which is found in both myeloid and lymphoid cells.
11904448 Wild-type and mutated presenilins 2 trigger p53-dependent apoptosis and down-regulate presenilin 1 expression in HEK293 human cells and in murine neurons
11891288 Notch receptor cleavage depends on but is not directly executed by presenilins
11876645 inhibition of endoproteolysis by gamma-secretase inhibitors
11847232 interaction with CALP/KChIP4
11799129 enhancement of amyloid beta protein by Herp, and endoplasmic reticulum stress-inducible protein
11568920 Observational study of gene-disease association. (HuGE Navigator)
11436125 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDPDRYVCSGVPG      1 - 70
RPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVL     71 - 140
NTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWN    141 - 210
FGAVGMVCIHWKGPLVLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVET    211 - 280
AQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGE    281 - 350
ELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISI    351 - 420
TFGLIFYFSTDNLVRPFMDTLASHQLYI                                              421 - 448
//

Text Mined References (195)

PMID Year Title
26522186 2016 Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
26422362 2015 Probable novel PSEN2 Pro123Leu mutation in a Chinese Han family of Alzheimer's disease.
26203236 2015 Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.
26166204 2015 Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
26159191 2015 Screening of Early and Late Onset Alzheimer's Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy.
25998117 2015 Genetic testing and counseling in the diagnosis and management of young-onset dementias.
25814654 2015 Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of ?-secretase activity.
25614624 2015 Presenilin transmembrane domain 8 conserved AXXXAXXXG motifs are required for the activity of the ?-secretase complex.
25429133 2014 Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex.
25323700 2015 Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.
24927704 2014 PSEN1 and PSEN2 gene expression in Alzheimer's disease brain: a new approach.
24885952 2014 Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.
24858037 2014 Loss of presenilin 2 is associated with increased iPLA2 activity and lung tumor development.
24844686 2014 Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.
24838186 2014 Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.
24704512 2014 Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
24650794 2014 Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
24594196 2014 Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24145027 2013 Presenilins regulate neurotrypsin gene expression and neurotrypsin-dependent agrin cleavage via cyclic AMP response element-binding protein (CREB) modulation.
23884042 2013 Impaired default network functional connectivity in autosomal dominant Alzheimer disease.
23589300 2013 Interactome analyses of mature ?-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2.
23546527 2013 Alzheimer's phenotypes induced by overexpression of human presenilin 2 mutant proteins stimulate significant changes in key factors of glucose metabolism.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22872014 2012 Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates A?-40 levels to presenilin 2.
22755192 2011 [Familial Alzheimer disease].
22753229 2012 RNAi-mediated inhibition of presenilin 2 inhibits glioma cell growth and invasion and is involved in the regulation of Nrg1/ErbB signaling.
22580083 2012 Presenilin-2 polymorphisms and risk of sporadic AD: evidence from a meta-analysis.
22503161 2012 Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
22312439 2012 Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
22302987 2012 Presenilin-2 regulates the degradation of RBP-Jk protein through p38 mitogen-activated protein kinase.
22249458 2012 Mutant presenilin 2 increases ?-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase.
22074918 2011 Comparison of presenilin 1 and presenilin 2 ?-secretase activities using a yeast reconstitution system.
22045484 2012 The BACE1-PSEN-A?PP regulatory axis has an ancient role in response to low oxygen/oxidative stress.
22027014 2012 The role of variation at A?PP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.
21959359 Molecular genetic analysis of the APP, PSEN1, and PSEN2 genes in Finnish patients with early-onset Alzheimer disease and frontotemporal lobar degeneration.
21914807 2011 Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and ?-secretase complex stabilization.
21545304 2011 Genetics of Alzheimer's disease: an insight into presenilins and apolipoprotein E instigated neurodegeneration.
21409510 2011 Presenilin-2 gene mutation presenting as Lewy body dementia?
21285369 2011 Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.
21234330 2011 Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease.
21163940 2011 Interactome mapping suggests new mechanistic details underlying Alzheimer's disease.
20850903 2012 Genetic variants in PSEN2 and correlation to CSF ?-amyloid42 levels in AD.
20701429 2011 Enhanced ROS generation mediated by Alzheimer's disease presenilin regulation of InsP3R Ca2+ signaling.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20594621 2012 The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.
20468060 2010 Genetic pathway-based hierarchical clustering analysis of older adults with cognitive complaints and amnestic mild cognitive impairment using clinical and neuroimaging phenotypes.
20457965 2010 The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.
20375137 2010 Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
20333730 2010 Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families.
20164579 2010 A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20009122 2009 [Genetics of dementias, Part 4: a spectrum of mutations responsible for the familial autosomal dominant form of Alzheimer's disease].
20008660 2009 High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19889971 2009 p53-dependent control of transactivation of the Pen2 promoter by presenilins.
19834068 2009 Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria.
19768372 2010 Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia.
19573580 2009 Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19382908 2009 Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake.
19276543 2009 A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.
19073399 2008 Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature.
19036728 2009 Pen2 and presenilin-1 modulate the dynamic equilibrium of presenilin-1 and presenilin-2 gamma-secretase complexes.
18842294 2008 Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.
18727676 2008 A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18667258 2010 Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
18591429 2008 SERCA pump activity is physiologically regulated by presenilin and regulates amyloid beta production.
18427071 2008 A novel PSEN2 mutation associated with a peculiar phenotype.
18350357 2008 Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.
18293935 2008 Novel role of presenilins in maturation and transport of integrin beta 1.
18283638 2008 Tumor-associated neoexpression of the pS2 peptide and MUC5AC mucin in primary adenocarcinomas and signet ring cell carcinomas of the urinary bladder.
18087668 2008 Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population.
17986144 2007 Metalloproteases and gamma-secretase: new membrane partners regulating p75 neurotrophin receptor signaling?
17903177 2007 HMGA1a: sequence-specific RNA-binding factor causing sporadic Alzheimer's disease-linked exon skipping of presenilin-2 pre-mRNA.
17727891 2008 The association of the regulatory region of the presenilin-2 gene with Alzheimer's disease in the Northern Han Chinese population.
17614368 2007 Studies of the role of ubiquitination in the interaction of ubiquilin with the loop and carboxyl terminal regions of presenilin-2.
17560791 2007 Pathological activity of familial Alzheimer's disease-associated mutant presenilin can be executed by six different gamma-secretase complexes.
17412506 2007 A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease.
17401676 2007 PEN-2 overexpression induces gamma-secretase protein and its activity with amyloid beta-42 production.
17401156 2006 Changes in cholesterol metabolism are associated with PS1 and PS2 gene regulation in SK-N-BE.
17345043 2007 Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease.
17268505 2007 Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease.
17268504 2007 When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease.
17186461 2006 Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16630834 2006 Ligand-dependent cleavage of the P75 neurotrophin receptor is necessary for NRIF nuclear translocation and apoptosis in sympathetic neurons.
16620965 2006 Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels.
16474849 2006 Functional characterization of novel presenilin-2 variants identified in human breast cancers.
16423463 2006 Genetic study of Sardinian patients with Alzheimer's disease.
16375654 2005 Recent insights on the pro-apoptotic phenotype elicited by presenilin 2 and its caspase and presenilinase-derived fragments.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16258850 2005 Differentially expressed genes in transgenic mice carrying human mutant presenilin-2 (N141I): correlation of selenoprotein M with Alzheimer's disease.
16233903 2006 Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: a case-control study.
16135086 2005 gamma-Secretase complexes containing N- and C-terminal fragments of different presenilin origin retain normal gamma-secretase activity.
16014629 2005 Presenilins mediate phosphatidylinositol 3-kinase/AKT and ERK activation via select signaling receptors. Selectivity of PS2 in platelet-derived growth factor signaling.
15975068 2004 Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.
15951428 2005 Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases.
15776278 2005 Novel mutations and repeated findings of mutations in familial Alzheimer disease.
15755689 2005 Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's disease presenilin-2 T122R mutation and anticipates the onset of dementia.
15721744 2005 p75NTR--live or let die.
15663477 2005 Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.
15629423 2005 Expression profiles of two human APH-1 genes and their roles in formation of presenilin complexes.
15591316 2005 Gamma-secretase complex assembly within the early secretory pathway.
15537629 2005 A sequence within the first transmembrane domain of PEN-2 is critical for PEN-2-mediated endoproteolysis of presenilin 1.
15534001 2004 The ERBB4/HER4 receptor tyrosine kinase regulates gene expression by functioning as a STAT5A nuclear chaperone.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15385547 2004 Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins.
15274632 2004 Purification and characterization of the human gamma-secretase complex.
15006697 2004 The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ release from intracellular stores.
15004330 2004 Overexpression of ubiquilin decreases ubiquitination and degradation of presenilin proteins.
14769392 2003 Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
14741365 2004 Impas 1 possesses endoproteolytic activity against multipass membrane protein substrate cleaving the presenilin 1 holoprotein.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14577603 2003 Two novel spliced presenilin 2 transcripts in human lymphocyte with oxidant stress and brain.
14504279 2003 Syndecan 3 intramembrane proteolysis is presenilin/gamma-secretase-dependent and modulates cytosolic signaling.
12925374 2003 A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
12885769 2003 Presenilins mutated at Asp-257 or Asp-385 restore Pen-2 expression and Nicastrin glycosylation but remain catalytically inactive in the absence of wild type Presenilin.
12846562 2003 In vitro characterization of the presenilin-dependent gamma-secretase complex using a novel affinity ligand.
12843241 2003 Proteolytic processing of the p75 neurotrophin receptor and two homologs generates C-terminal fragments with signaling capability.
12817569 2003 Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Pozna? region.
12787561 Ten years on: mediation of cell death by the common neurotrophin receptor p75(NTR).
12770698 2003 Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
12639958 2003 Membrane topology of gamma-secretase component PEN-2.
12605888 2003 Overexpression of wild-type presenilin 2 or its familial Alzheimer's disease-associated mutant does not induce or increase susceptibility to apoptosis in different cell lines.
12556443 2003 The C-terminal fragment of presenilin 2 triggers p53-mediated staurosporine-induced apoptosis, a function independent of the presenilinase-derived N-terminal counterpart.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12471034 2003 APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.
12403846 2002 Transcriptional synergism on the pS2 gene promoter between a p160 coactivator and estrogen receptor-alpha depends on the coactivator subtype, the type of estrogen response element, and the promoter context.
12297508 2002 Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.
12232783 2002 Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contribution to the gene activity and risk for AD.
12210343 2002 Evaluation of multiple presenilin 2 SNPs for association with early-onset sporadic Alzheimer disease.
12198112 2002 PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin.
12173418 2002 N141I mutant presenilin-2 gene enhances neuronal cell death and decreases bcl-2 expression.
12058025 2002 A new splice variant of glial fibrillary acidic protein, GFAP epsilon, interacts with the presenilin proteins.
12048259 2002 Presenilin and nicastrin regulate each other and determine amyloid beta-peptide production via complex formation.
11987239 Identification of the presenilins in hematopoietic cells with localization of presenilin 1 to neutrophil and platelet granules.
11904448 2002 Wild-type and mutated presenilins 2 trigger p53-dependent apoptosis and down-regulate presenilin 1 expression in HEK293 human cells and in murine neurons.
11891288 2002 Notch receptor cleavage depends on but is not directly executed by presenilins.
11876645 2002 Endoproteolysis of presenilin in vitro: inhibition by gamma-secretase inhibitors.
11847232 2002 Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4.
11799129 2002 Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein.
11738826 2001 Identification of a novel family of putative methyltransferases that interact with human and Drosophila presenilins.
11719200 2001 Interaction with telencephalin and the amyloid precursor protein predicts a ring structure for presenilins.
11568920 2001 Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
11518718 2001 Murine notch homologs (N1-4) undergo presenilin-dependent proteolysis.
11436125 2001 Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease.
11076969 2000 Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation.
11001931 2000 Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein.
10993067 2000 Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.
10922078 2000 Presenilin complexes with the C-terminal fragments of amyloid precursor protein at the sites of amyloid beta-protein generation.
10854253 2000 Isolation and characterization of novel presenilin binding protein.
10748169 2000 Presenilin 2 interacts with sorcin, a modulator of the ryanodine receptor.
10732806 1998 A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.
10677567 2000 Molecular interactions between presenilin and calpain: inhibition of m-calpain protease activity by presenilin-1, 2 and cleavage of presenilin-1 by m-, mu-calpain.
10652302 2000 The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation.
10631141 2000 High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
10497236 1999 A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling.
10446169 1999 Interaction of Alzheimer's presenilin-1 and presenilin-2 with Bcl-X(L). A potential role in modulating the threshold of cell death.
10369872 1999 Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport.
10366599 1999 A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein.
10361981 1999 Biology of presenilins as causative molecules for Alzheimer disease.
10078972 1999 Mapping the APP/presenilin (PS) binding domains: the hydrophilic N-terminus of PS2 is sufficient for interaction with APP and can displace APP/PS1 interaction.
10069390 1999 Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases.
10037471 1999 Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin.
9990034 1999 Phosphorylation of presenilin-2 regulates its cleavage by caspases and retards progression of apoptosis.
9852298 1998 The presenilin 2 loop domain interacts with the mu-calpain C-terminal region.
9813158 1998 Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome.
9771752 1998 Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment.
9683324 1998 Localization and possible functions of presenilins in brain.
9632714 1998 The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin.
9558331 1998 Proteolytic fragments of the Alzheimer's disease associated presenilins-1 and -2 are phosphorylated in vivo by distinct cellular mechanisms.
9521418 1998 Presenilin mutations in Alzheimer's disease.
9450781 1998 Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).
9437013 1998 Interaction of presenilins with the filamin family of actin-binding proteins.
9384602 1998 Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
9298903 1997 Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation.
9252383 1997 Presenilins are processed by caspase-type proteases.
9223340 1997 Interaction between amyloid precursor protein and presenilins in mammalian cells: implications for the pathogenesis of Alzheimer disease.
9219695 1997 Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease.
9073509 1997 Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.
9050898 1997 The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
8972483 1996 The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum.
8940094 1996 Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3.
8939861 1996 Participation of presenilin 2 in apoptosis: enhanced basal activity conferred by an Alzheimer mutation.
8878479 1996 Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1.
8661049 1996 Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.
8618867 1995 Identification and expression analysis of a potential familial Alzheimer disease gene on chromosome 1 related to AD3.
8574969 1996 Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.
7651536 1995 Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
7638622 1995 Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
7638621 1995 A familial Alzheimer's disease locus on chromosome 1.