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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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rs63750231
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0.100 |
GeneticVariation |
BEFREE |
We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.
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8945747 |
1996 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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rs63750264
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0.100 |
GeneticVariation |
BEFREE |
In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion.
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8867023 |
1996 |
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rs63750264
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0.100 |
GeneticVariation |
BEFREE |
In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695.
|
8599933 |
1996 |
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rs63750264
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0.100 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), three missense mutations, V642I, V642F and V642G, that co-segregate with the disease phenotype have been discovered in the 695 amino acid form of the amyloid precursor protein APP.
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9305632 |
1997 |
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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 |
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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 |
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rs63750264
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0.100 |
GeneticVariation |
BEFREE |
Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation.
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8121639 |
1993 |
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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.
|
30598257 |
2019 |
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rs63750264
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0.100 |
GeneticVariation |
BEFREE |
The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.
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1908231 |
1991 |
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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 |
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rs63750264
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0.100 |
GeneticVariation |
BEFREE |
The cytoskeletal pathology of a patient with familial Alzheimer's disease (AD) associated with the probably causal amyloid precursor protein (APP) codon 717 Val----Ile mutation is described.
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1584463 |
1992 |
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rs63750264
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0.100 |
GeneticVariation |
BEFREE |
This mutation, which is predicted to cause the missense substitution of isoleucine for valine at codon 717 of APP, cosegregated perfectly with the FAD trait (lod score = 3.49 at theta = 0.00).
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1520398 |
1992 |