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Presenilin-1 targeted morpholino induces cognitive deficits, increased brain Abeta1-42 and decreased synaptic marker PSD-95
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
Both human PS2V and zebrafish PS1IV can stimulate gamma-secretase activity despite extreme structural divergence.
We identified psen1 as a regulator of the development of histaminergic neurons in zebrafish
We now demonstrate that zebrafish embryos maintain relatively stable levels of normal Presenilin1 transcript and protein despite accumulating large amounts of aberrantly spliced presenilin1 transcript.
These results suggest that Psen2 plays a more prominent role in Notch signalling and embryo development in zebrafish than in mammals, and that the effect of reduced Psen2 can be ameliorated by Psen1 loss.
The variable clinical findings associated with the S170F mutation of Presenilin-1 highlight the relevance of atypical phenotypes in the context of research and under a clinical perspective
results provide insights into the relationship between PS1 conformational changes and gamma-secretase activities
Report confirmed that PSEN1 Thr116Ile mutation was causative of an autosomal dominant early onset Alzheimer's disease. In silico predictions were performed to estimate the possible role of mutation, and confirmed that it could disturb the HL-I loop, resulting in significant possible disturbances in secretase functions.
Data indicate a novel role for PS1 in regulating TREM2 intracellular trafficking and pathophysiological function.
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding presenilin 1.
We describe here the generation of functional astrocytes from induced pluripotent stem cells (iPSCs) derived from AD patients with PSEN1 DeltaE9 mutation, as well as healthy and gene-corrected isogenic controls.
The data of this study suggest a deficiency of PE and LPC levels in the temporal cortex from Alzheimer's Disease-PSEN1(E280A) and Sporadic Alzheimer's Disease brains with respect to healthy brains.
3 distinct conformations of gamma-secretase (open, semiopen, and closed) differ by tilting of helices 2 and 3 of PS1, directly controlling active site availability. The semiopen conformation shows the best fit of Abeta peptides, i.e., longer residence before release and by inference more trimming. The closed, hydrophobic conformation is largely inactive and the open conformation is active but provides less optimal inte...
Dominant negative effect of the loss-of-function gamma-secretase mutants on the wild-type enzyme through heterooligomerization has been demonstrated.
phosphorylation of PS1 at Ser367 does not affect gamma-secretase activity, but has a dramatic effect on Abeta levels in vivo
This study demonstrated that the Precuneus cortex brain wave in PSEN1 E280A Family at Risk of Developing Alzheimer's disease.
The results show that in cognitively normal young adults carrying presenilin-1mutations had different spontaneous brain activity patterns without cerebral structural differences.
PSEN1 gene polymorphisms in Caucasian Alzheimer's disease
A case control study confirms PSEN1 rs17125721 as a risk factor for familial AD in Brazil.
PS1 increases the level of U1snRNA accompanied with the adverse change of Abeta level, AD-related tau cytoskeletal pathology, and SH-SY5Y cell apoptosis.
Study reports a novel PSEN1 K311R mutation in two Chinese families with late-onset Alzheimer's disease. The mutation was located within the hydrophilic loop domain of PSEN1 C-terminal cytoplasmic loop and enhanced Abeta42 production and tau phosphorylation in HEK293-APP695wt cells.
Induced pluripotent stem cells derived from somatic cells of familial Alzheimer disease patients carrying PSEN1 mutations exhibit premature neuronal differentiation with decreased proliferation and increased apoptosis.
This study shown that PSEN1 is decreased in Alzheimer's Disease platelets
Whole-exome sequencing of 238 African American subjects identified 6 rare missense variants within the early-onset Alzheimer's disease (AD) genes, which were observed in AD cases but never among controls. These variants were analyzed in an independent cohort of 300 African American subjects, which indicated that a PSEN2 and PSEN1 novel rare variants, may contribute to AD risk in this population.
that reduction in the synaptotagmin 1 level and presenilin 1-synaptotagmin 1 interactions in AD brain may present molecular underpinning of the pathogenic presenilin 1 conformation
found a stronger requirement for Presenilin during mouse lens development
Under conditions of reduced glucose, the PS1/gamma-secretase system decreases neuronal losses by suppressing miR-212 and increasing its target survival factor, PEA15. These observations have implications for mechanisms of neuronal death under conditions of reduced glucose and may provide targets for intervention in neurodegenerative disorders.
PS1 phosphorylated at Ser367 has an antiamyloidogenic function, promoting autophagosome-lysosome fusion and increasing betaCTF degradation
Fibroblast growth factor (FGF1 and FGF2), but not vascular endothelial growth factor (VEGF) rescued Psen1-/- cells from serum starvation induced apoptosis.In the absence of serum, FGF2 immunoreactivity was distributed diffusely in cytoplasmic and nuclear vesicles of wt and Psen1-/- cells, as levels of FGF2 in nuclear and cytosolic fractions were not significantly different.
Upregulated p53-p21 Signaling is linked with presenilin 1 mutants
The cognitive function of APP/PS1 mice was impaired at 10months of age; moreover, the hypermetabolic state identified in various brain regions at 5months of age was also significantly decreased.
Using knockout cell lines in combination with siRNA and immunoprecipitation approaches, our data clearly demonstrated that the Pen-2 and PS1 are sufficient to form a functionally active gamma-secretase that is capable of catalyzing the processing of Notch. This finding strongly suggests that Pen-2 is the most crucial component in gamma-secretase complex in addition to presenilin that functions as the catalytic subunit.
PS1 plays a crucial role in the cerebrovascular system and the vascular reactivity is decreased through altered Ca(2+) signals in PS1dE9 mutant mice.
Loss of PS1 is associated with cognitive impairment.
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.
Conditionally targeted deletion of PSEN1 leads to diastolic heart dysfunction and ultrastructural cardiomyocyte abnormalities.
findings indicate that impaired processing or localization of apoER2 may contribute to the pathogenic effects of familial Alzheimer's disease mutations in PS1
Tspan3 is a central endocytic membrane component regulating the expression of ADAM10, presenilin and the amyloid precursor protein.
Study shows that the binding of HSF-1, Cdx1, Ets-1 and Sp1 to Presenilin 1 promoter and that of Nkx2.2, HFH-2, Cdx1 and NF-kappaB to Presenilin 2 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 through p38alpha, contributing to the excitotoxic stimulus of EW
amino acid sensing of mechanistic target of rapamycin complex 1 (mTORC1) is dysregulated in cells deficient in presenilin.
the G206D mutation reduced presenilin-1-presenilin enhancer 2 interaction, but did not abolish gamma-secretase formation and presenilin-1 endoproteolysis
maternal dietary betaine supplementation during gestation inhibits hepatic cell proliferation in neonatal piglets, at least partly, through epigenetic regulation of hepatic CCND2 and PSEN1 genes via a STAT3-dependent pathway
gamma-Secretase and presenilin mediate cleavage and phosphorylation of vascular endothelial growth factor receptor-1
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