Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.
|
31153663 |
2020 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
Female and male transgenic AD model mice expressing APPswe/PSEN1ΔE9 require Pyk2 for age-dependent loss of synaptic markers and for impairment of learning and memory.
|
30518596 |
2019 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation.
|
28269784 |
2017 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations or upregulation in presenilin 1 (PS1) gene are found in familial early-onset Alzheimer's disease or sporadic late-onset Alzheimer's disease, respectively.
|
28753475 |
2017 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease.
|
28448946 |
2017 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease.
|
27117003 |
2016 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.
|
26549787 |
2016 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We constructed the family pedigree, evaluated mutations usually associated with early-onset Alzheimer's disease (APP, PSEN1, PSEN2), and assessed polymorphisms in the apolipoprotein E (APOE) gene and in cytokine genes that we had previously found to be associated with a higher risk of LOAD (IL-10, IL-6, TNF-α).
|
26014970 |
2016 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Identification of the key molecules involved in chronic copper exposure-aggravated memory impairment in transgenic mice of Alzheimer's disease using proteomic analysis.
|
25352456 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
We measured MAPT promoter methylation in a brain tissue cohort of early-onset Alzheimer's disease (EOAD) with defined causative mutations in the PSEN1 gene (Normal = 10, PSEN1 AD = 10), and idiopathic late-onset Alzheimer's disease (Normal = 12, LOAD = 12).
|
26159201 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Protective Effect of Notoginsenoside R1 on an APP/PS1 Mouse Model of Alzheimer's Disease by Up-Regulating Insulin Degrading Enzyme and Inhibiting Aβ Accumulation.
|
25714973 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
We collected blood DNA from 120 late-onset Alzheimer's disease (AD) patients and 115 healthy matched controls and analysed the methylation levels of genes involved in amyloid-beta peptide production (PSEN1 and BACE1), in DNA methylation (DNMT1, DNMT3A and DNMT3B), and in one-carbon metabolism (MTHFR), searching for correlation with age and gender, with biomarkers of one-carbon metabolism (plasma homocysteine, and serum folate and vitamin B12 levels), and with disease status (being healthy or having AD).
|
26079324 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
40 cognitively normal volunteers from a Colombian population with familial AD were included; 18 were positive for the AD-associated presenilin 1 mutation (carriers, mean age=38) whereas 22 were non-carriers.
|
23134660 |
2013 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
APP/PS1 transgenic mice treated with aluminum: an update of Alzheimer's disease model.
|
22507317 |
2012 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
|
22312439 |
2012 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation.
|
17962197 |
2008 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of the current study is to determine whether there is an association between the intronic polymorphism of the presenilin-1 gene and late-onset Alzheimer's disease in a cohort of Turkish patients.
|
19017784 |
2008 |
Alzheimer Disease, Late Onset
|
0.400 |
PosttranslationalModification
|
disease |
BEFREE |
Additionally, we found that some genes that participate in amyloid-beta processing (PSEN1, APOE) and methylation homeostasis (MTHFR, DNMT1) show a significant interindividual epigenetic variability, which may contribute to LOAD predisposition.
|
18628954 |
2008 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
A presenilin-1 mutation renders neurons vulnerable to isoflurane toxicity.
|
18227305 |
2008 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.
|
17366635 |
2007 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
|
17192785 |
2007 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Late-onset AD may be associated with deterministic PS1 mutations; these should be sought when the family history suggests autosomal dominant disease transmission.
|
17188713 |
2007 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Insensitivity to Abeta42-lowering nonsteroidal anti-inflammatory drugs and gamma-secretase inhibitors is common among aggressive presenilin-1 mutations.
|
17573346 |
2007 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Presenilin-1 2/2 genotype is a risk factor for late onset Alzheimer disease in the Spanish population, and probably, for Europeans.
|
17719017 |
2007 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Beta-amyloid mediated nitration of manganese superoxide dismutase: implication for oxidative stress in a APPNLH/NLH X PS-1P264L/P264L double knock-in mouse model of Alzheimer's disease.
|
16651627 |
2006 |