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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.
Here, comprehensive analysis using FRET-based imaging reveals that activity-driven and Protein Kinase A-mediated PS1 phosphorylation at three domains (domain 1: T74, domain 2: S310 and S313, domain 3: S365, S366, and S367), with S367 being critical, is responsible for the PS1 pathogenic 'closed' conformation, and resulting increase in the Abeta42/40 ratio.
One family harbored a novel mutation in PSEN1:p.Phe283Leu. MRI (show C7ORF49 Proteins) demonstrated severe parietal, perirolandic, and temporal atrophy, with relative sparing of frontal and ipsilateral hippocampal regions. Autopsy confirmed pure AD pathology.
Study examined the presence of causative and low frequency coding variants in the Alzheimer disease (AD), Frontotemporal lobar degeneration, Amyotrophic lateral sclerosis and Parkinson disease Mendelian genes, in over 450 families with clinical history of AD and over 11,710 sporadic cases and cognitive normal participants from North America.Only PSEN1 and PINK1 (show PINK1 Proteins) showed consistent association with AD cases.
Cultured hippocampal neurons expressing mutant PS1 had attenuated CCE that was associated with destabilized dendritic spines, which were rescued by either gamma-secretase inhibition or overexpression of STIM1 (show STIM1 Proteins).
PSEN1 mutations responsible for early-onset Alzheimer's disease with extrapyramidal phenotype.
A novel mutation in exon 7 of presenilin 1 (Leu232Pro) was discovered in a Korean patient with early-onset Alzheimer's disease.
PSEN1 pathogenic mutation M84V is found in autosomal dominant Alzheimer's disease.
The authors demonstrate that pathological PS1 loss-of-function impinges on neurite formation through a selective APP (show APP Proteins) gain-of-function that could impact on axodendritic connectivity and contribute to aberrant axonal sprouting observed in Alzheimer's disease patients.
early-onset Alzheimer's disease is caused by a novel N135Y mutation in PSEN1.
PSEN1 rare variants collectively show a significant association with the brain atrophy in regions preferentially affected by late-onset Alzheimer's disease
PS1 plays a crucial role in the cerebrovascular system and the vascular reactivity is decreased through altered Ca(2 (show CA2 Proteins)+) signals in PS1dE9 mutant mice.
Loss of PS1 is associated with cognitive impairment.
Conditionally targeted deletion of PSEN1 leads to diastolic heart dysfunction and ultrastructural cardiomyocyte abnormalities.
findings indicate that impaired processing or localization of apoER2 (show LRP8 Proteins) may contribute to the pathogenic effects of familial Alzheimer's disease mutations in PS1
Tspan3 (show TSPAN3 Proteins) is a central endocytic membrane component regulating the expression of ADAM10 (show ADAM10 Proteins), presenilin and the amyloid precursor protein (show APP Proteins).
Study shows that the binding of HSF-1 (show HSF1 Proteins), Cdx1 (show CDX1 Proteins), Ets-1 (show ETS1 Proteins) and Sp1 (show SP1 Proteins) to Presenilin 1 promoter and that of Nkx2.2 (show Nkx2-2 Proteins), HFH-2 (show FOXD3 Proteins), Cdx1 (show CDX1 Proteins) and NF-kappaB (show NFKB1 Proteins) to Presenilin 2 (show PSEN2 Proteins) promoter regulate their differential expression during brain development.
conclusion that the PSEN1 mutations are extreme examples of the previously proposed ''dysfunction'' of gamma-secretase that characterizes familial Alzheimer's disease
PS1 expression is triggered by glutamate (show GRIN1 Proteins) through p38alpha (show MAPK14 Proteins), contributing to the excitotoxic stimulus of EW
amino acid sensing of mechanistic target of rapamycin (show FRAP1 Proteins) complex 1 (mTORC1) is dysregulated in cells deficient in presenilin.
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