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Using an antisense morpholino oligonucleotide, study blocked induction of PS1IV isoform that normally occurs under hypoxia,identified gene regulatory networks that are modulated by PS1IV: observed changes in expression of genes controlling inflammation, vascular development, the UPR, protein synthesis, calcium homeostasis, catecholamine biosynthesis, TOR signaling, and cell proliferation
We identified psen1 as a regulator of the development of histaminergic neurons in zebrafish
These results suggest that Psen2 (show PSEN2 Proteins) plays a more prominent role in Notch (show NOTCH1 Proteins) signalling and embryo development in zebrafish than in mammals, and that the effect of reduced Psen2 (show PSEN2 Proteins) can be ameliorated by Psen1 loss.
Mice overexpressing the Swedish (K594M/N595L) mutation of human APP (show APP Proteins) together with PS1 deleted in exon 9 were used in this study which traces age- and brain region-specific changes of glucose metabolic disorder, learning, and memory dysfunction in early Alzheimer's Disease using 18)F-labed fluorodeoxyglucose ((18)F-FDG (show SMUG1 Proteins)) microPET.
Three early-onset Alzheimer's disease (EOAD) causative genes (APP (show APP Proteins), PSEN1, and PSEN2 (show PSEN2 Proteins)) were discovered in Asian countries. Most of the EOAD-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.[review]
Data show that valproic acid (VPA) treatment enhanced gender-dependent learning and memory impairment in the human amyloid beta precursor protein/presenilin 1 (APP (show APP Proteins)/PS1) double transgenic mice.
Asian familial Alzheimer's disease patients with PSEN1 mutations presented more frequently with disorientation and personality change but less frequently with atypical clinical features.[review]
PSEN1 promotes invasion and metastasis in gastric cancer and may represent a novel prognostic biomarker and potential therapeutic target for gastric cancer treatment.
Data show that presenilin 1 (PS1)-containing gamma-secretase complexes were targeted to the plasma membrane, whereas presenilin 2 (PS2 (show PSEN2 Proteins))-containing ones were addressed to the trans-Golgi network, to recycling endosomes.
PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease.
These findings indicate altered phospholipid and sphingolipid metabolism in Presenilin1 Mutation Carriers.
These findings identify Syt1 (show SYT1 Proteins) as a novel Ca(2 (show CA2 Proteins)+)-sensitive PS1 modulator that could regulate synaptic ABETA (show APP Proteins), opening avenues for novel and selective synapse targeting therapeutic strategies.
Expression of mutated presenilin 1 (PS1M146V) in astrocytes alters vesicle dynamics and reduces evoked secretion of the signaling molecule ANP (show NPPA Proteins); both may contribute to the development of Alzheimer disease
amino acid sensing of mechanistic target of rapamycin (show FRAP1 Proteins) complex 1 (mTORC1) is dysregulated in cells deficient in presenilin.
the G206D mutation reduced presenilin-1-presenilin enhancer 2 (show PSENEN Proteins) interaction, but did not abolish gamma-secretase formation and presenilin-1 endoproteolysis
This study deals with the effect of attenuated endoproteolysis of PS1 on store-operated calcium (SOC (show UBXN11 Proteins)) entry in neuronal cells and mouse fibroblasts with double knockouts of PS1 and PS2 (show PDCD6 Proteins)
Results showed that epigenetic mechanisms play a pivotal role in transcriptional regulation of PS1 and PS2 (show PDCD6 Proteins) during cerebral cortical development
lactate levels remained elevated with age and increased aerobic glycolysis enzyme expression correlated with poorer memory performance in APP (show APP Proteins)/PS1 mice
PS1 deficiency depletes vATPase (show ATP6V1H Proteins), impairing lysosomal acidification and calcium homeostasis.
Abeta (show APP Proteins) oligomers in the cerebrospinal fluid (CSF (show CSF2 Proteins)) further promoted the expression of APH-1alpha/-1beta (by >2.5-fold), which enhances the gamma-cleavage of APP (show APP Proteins) and Abeta (show APP Proteins) deposition during AD progression
This study presents novel evidence for the differential expression of PS proteins in a nongenetic model for aging, resulting in an overall increase of the PS2 (show PDCD6 Proteins) to PS1 ratio.
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
SLC2A13 is a novel gamma-secretase associated protein that regulates amyloid beta production without affecting Notch (show NOTCH1 Proteins) cleavage.
maternal dietary betaine supplementation during gestation inhibits hepatic cell proliferation in neonatal piglets, at least partly, through epigenetic regulation of hepatic CCND2 (show CCND2 Proteins) and PSEN1 genes via a STAT3 (show STAT3 Proteins)-dependent pathway
gamma-Secretase and presenilin mediate cleavage and phosphorylation of vascular endothelial growth factor receptor-1 (show FLT1 Proteins)
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1\; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined.
, presenilin 1 (Alzheimer disease 3)
, presenilin-1 isoform I-463
, presenilin-1 isoform I-467
, presenilin 1
, presenilin alpha