Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial Alzheimer's disease (fAD) mutations alter amyloid precursor protein (APP) cleavage by γ-secretase, increasing the proportion of longer amyloidogenic amyloid-β (Aβ) peptides.
|
30980041 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
As presenilin is the catalytic component of the γ-secretase protease complex that produces Aβ from APP, mutation of the enzyme or substrate that produce Aβ leads to FAD.
|
29619615 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rare cases of early-onset familial Alzheimer's diseases are caused by high-penetrant mutations in genes coding for amyloid precursor protein, presenilin 1, and presenilin 2.
|
31705489 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
|
31011484 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
APP mRNA translation inhibitors such as the anticholinesterase phenserine, and high throughput screened molecules, selectively inhibited the uniquely folded iron-response element (IRE) sequences in the 5'untranslated region (5'UTR) of APP mRNA and this class of drug continues to be tested in a clinical trial as an anti-amyloid treatment for AD.
|
30823541 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, recent understanding of the complexity of the processing of APP by γ-secretase and the effects of FAD mutations on this processing suggest other forms of Aβ as potentially pathogenic.
|
31699328 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
In the present study, we aimed to evaluate its possible beneficial effects in a well-established preclinical mixed model of familial Alzheimer's disease (AD) and type 2 diabetes mellitus (T2DM) based on the use of transgenic APPswe/PS1dE9 (APP/PS1) mice fed with a high fat diet (HFD).
|
31838720 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tau PET With <sup>18</sup>F-THK-5351 Taiwan Patients With Familial Alzheimer's Disease With the APP p.D678H Mutation.
|
31191427 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have tested the functional significance of BACE1 processing of APP using App-Swedish (App<sup>s</sup> ) knock-in rats, which carry an App mutation that causes familial Alzheimer's disease (FAD) in humans.
|
31496118 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that in the FAD PS1 ΔE9 cells, the elevated cellular cholesterol level contributes to the altered APP processing by increasing APP localized in lipid rafts.
|
30682043 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that fAD mutations most likely reduce the stability of the protein-substrate complex and thus retention time of APP-C99, leading to premature release of longer toxic Aβ<sub>42</sub> in accordance with the FIST model of Aβ production, whereas the observed general destabilization of the protein may reduce activity towards other substrates.
|
31697913 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Causative mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2) account for a majority of cases of familial Alzheimer disease (FAD) inherited in an autosomal-dominant pattern.
|
30822634 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-dominant familial Alzheimer disease (AD) is caused by by variants in presenilin 1 (<i>PSEN1</i>), presenilin 2 (<i>PSEN2</i>), and amyloid precursor protein (<i>APP</i>).
|
31020001 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
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 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial Alzheimer's disease (fAD) results from mutations in the amyloid precursor protein (APP) and presenilin (PSEN1 and PSEN2) genes.
|
31416668 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Few cases are familial (FAD), due to autosomal dominant mutations in presenilin-1 (PS1), presenilin-2 (PS2) or amyloid precursor protein (APP).
|
31606858 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
APP, whose mutations cause familial Alzheimer's disease (FAD), modulates neurotransmission via interaction of its cytoplasmic tail with the synaptic release machinery.
|
31235642 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
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 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Validation of these substrates was accomplished through mutational variants, including the installation of two natural APP FAD mutations.
|
31625391 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In old transgenic mice expressing mutated human (APP<sup>SwInd</sup>) linked to Familial Alzheimer's Disease, with both expression of APP<sup>SwInd</sup> and plaques, the rate and destination of Mn<sup>2+</sup> axonal transport is altered, as detected by time-lapse manganese-enhanced magnetic resonance imaging (MEMRI) of the brain in living mice.
|
31849608 |
2019 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
CTD_human |
Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers.
|
30320580 |
2018 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
To analyze the FTD genes in the DNA samples of patients belonging to families clinically classified as probable Alzheimer's disease (FAD) in the early 1990s and not carrying mutation in the three main genes linked to FAD (Presenilin 1, Presenilin 2, and Amyloid precursor protein).
|
29614680 |
2018 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gene mutations within amyloid precursor protein (APP or AβPP) and/or presenilin 1 (PS1) genes are determinants of familial Alzheimer's disease (fAD) and remain fundamental for experimental models.
|
30040726 |
2018 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Progress of Brain Amyloid Deposition in Familial Alzheimer's Disease with Taiwan D678H APP Mutation.
|
30320594 |
2018 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dissecting conformational changes in APP's transmembrane domain linked to ε-efficiency in familial Alzheimer's disease.
|
29966005 |
2018 |