rs63750231
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0.100 |
GeneticVariation |
BEFREE |
Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's Disease (fAD) patient carrying the E280A mutation in the PSEN1 gene.
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31026686 |
2019 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
iPSCs-derived nerve-like cells from familial Alzheimer's disease PSEN 1 E280A reveal increased amyloid-beta levels and loss of the Y chromosome.
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30904577 |
2019 |
rs63750264
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0.100 |
GeneticVariation |
BEFREE |
Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient carrying heterozygous V717I mutation in the APP gene.
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30851551 |
2019 |
rs63750264
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0.100 |
GeneticVariation |
BEFREE |
Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
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30598257 |
2019 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
To test this, we isolated EVs from iPSC-derived neuronal cultures generated from an fAD patient harboring a A246E mutation to presenilin-1 and stereotactically injected these EVs into the hippocampi of wild-type C57BL/6 mice.
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31594233 |
2019 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1.
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30138848 |
2018 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
This study aimed to determine Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Neuropsychological Assessment Battery total score diagnostic accuracy in the diagnosis of mild cognitive impairment (MCI) and dementia in familial Alzheimer's disease (FAD) with E280A mutation on presenilin-1 gene (PSEN1).
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26478578 |
2016 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
They have been found to be affected in patients who meet criteria for familial Alzheimer's disease due to the mutation E280A of the PSEN1 gene.
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25762465 |
2015 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
We propose that PS1-E280A affects both Ca2+ homeostasis and Aβ precursor processing, leading to FAD and neurodegeneration.
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24569455 |
2014 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
In this study, we examined the effect of the PS1-fAD mutation A246E on lysosomal pH and lysosomal function, and asked whether restoration of lysosomal pH could reverse some of these changes.
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24418614 |
2014 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
In this exploratory study, we sequenced the complete genomes of six individuals with familial Alzheimer disease due to the autosomal dominant mutation p.Glu280Ala in PSEN1 (MIM# 104311; NM_000021.3:c.839A>C).
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22829467 |
2012 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
We used a neuropsychological battery and a short-term memory binding task to assess patients with sporadic Alzheimer's disease (Experiment 1), familial Alzheimer's disease (Experiment 2) due to the mutation E280A of the Presenilin-1 gene and asymptomatic carriers of the mutation.
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21435348 |
2011 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
This study used functional MRI (fMRI) to examine hippocampal function in a group of healthy, young, cognitively-intact presymptomatic individuals (average age 33.7 years) who carry the E280A presenilin-1 (PS1) genetic mutation for FAD.
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21194156 |
2010 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
Using a combination of histological, immunohistochemical, biochemical, and mass spectrometric methods, we examined the structural and morphological nature of the amyloid species produced in a patient expressing the PS1 280Glu-->Ala familial Alzheimer's disease mutation.
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18317569 |
2008 |
rs63750264
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0.100 |
GeneticVariation |
BEFREE |
Further, overexpression of the SUMO E2 enzyme ubc9 along with SUMO-1 results in decreased levels of Abeta aggregates in cells transfected with the familial Alzheimer's disease-associated V642F mutant APP, indicating the potential of up-regulating activity of the cellular sumoylation machinery as an approach against Alzheimer's disease.
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18675254 |
2008 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
We validated our findings in Ca(2+) imaging experiments with primary fibroblasts obtained from an FAD patient possessing mutant PS1-A246E.
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17431506 |
2007 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
This investigation shows for the first time CA1 neuronal depopulation in a subpopulation of patients (five of eight) bearing the PS1[E280A] mutation with epileptic seizures, indicating a relation between hippocampal neuronal loss and epileptic seizures in FAD patients.
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15230697 |
2004 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
Co-expression of a human presenilin-1 (PS1) transgene containing the A246E FAD mutation accelerates deposition and also favors-at least initially-accumulation of A beta(42) so that the A beta(2):A beta(40) ratio of peptides from 7- to 12-month-old APP695SWE x PS1A246E animals is significantly elevated above that observed throughout the lifetime of APP695SWE mice.
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15312963 |
2004 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
A sample was taken of 49 subjects with FAD and with the mutation E280A in the presenilin-1 gene on chromosome 14; the sample was divided into two subgroups: 27 individuals with age of onset of the disease between 36 and 46 years (early onset) and 22 individuals whose disease began between 47 and 62 years (late onset).
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15000414 |
2003 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
In Antioquia, Colombia, investigators have recently discovered the largest family with the E280A mutation in the presenilin 1 gene that causes one type of familial Alzheimer's disease (FAD).
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12811988 |
2003 |
rs63750264
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0.100 |
GeneticVariation |
BEFREE |
A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants.
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11717357 |
2001 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
Individuals designated as FAD met the criteria for dementia and were positive for the E280A presenilin 1 mutation.
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10923058 |
2000 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
These data suggest that the FAD-linked A246E variant of PS1 leads to higher degree of LTP induction in mice.
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10078973 |
1999 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
We show that transgenic mouse lines expressing either the wild-type human PS1 protein or human PS1 with the A246E FAD mutation can rescue the PS1 knockout mouse from embryonic lethality to similar degrees, indicating that the mutation does not lead to loss of PS1 function during development.
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9539133 |
1998 |
rs63750526
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0.100 |
GeneticVariation |
BEFREE |
We now report that both human wild-type and A246E PS1 efficiently rescue the phenotypes observed in PS1(-/-) embryos, findings consistent with the view that FAD-linked PS1 mutants retain sufficient normal function during mammalian embryonic development.
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9539132 |
1998 |