Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750231
rs63750231
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. 31026686

2019

dbSNP: rs63750231
rs63750231
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. 30904577

2019

dbSNP: rs63750264
rs63750264
APP
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. 30851551

2019

dbSNP: rs63750264
rs63750264
APP
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. 30598257

2019

dbSNP: rs63750526
rs63750526
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. 31594233

2019

dbSNP: rs63750526
rs63750526
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. 30138848

2018

dbSNP: rs63750231
rs63750231
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). 26478578

2016

dbSNP: rs63750231
rs63750231
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. 25762465

2015

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE We propose that PS1-E280A affects both Ca2+ homeostasis and Aβ precursor processing, leading to FAD and neurodegeneration. 24569455

2014

dbSNP: rs63750526
rs63750526
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. 24418614

2014

dbSNP: rs63750231
rs63750231
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). 22829467

2012

dbSNP: rs63750231
rs63750231
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. 21435348

2011

dbSNP: rs63750231
rs63750231
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. 21194156

2010

dbSNP: rs63750231
rs63750231
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. 18317569

2008

dbSNP: rs63750264
rs63750264
APP
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. 18675254

2008

dbSNP: rs63750526
rs63750526
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. 17431506

2007

dbSNP: rs63750231
rs63750231
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. 15230697

2004

dbSNP: rs63750526
rs63750526
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. 15312963

2004

dbSNP: rs63750231
rs63750231
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). 15000414

2003

dbSNP: rs63750231
rs63750231
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). 12811988

2003

dbSNP: rs63750264
rs63750264
APP
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. 11717357

2001

dbSNP: rs63750231
rs63750231
0.100 GeneticVariation BEFREE Individuals designated as FAD met the criteria for dementia and were positive for the E280A presenilin 1 mutation. 10923058

2000

dbSNP: rs63750526
rs63750526
0.100 GeneticVariation BEFREE These data suggest that the FAD-linked A246E variant of PS1 leads to higher degree of LTP induction in mice. 10078973

1999

dbSNP: rs63750526
rs63750526
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. 9539133

1998

dbSNP: rs63750526
rs63750526
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. 9539132

1998