|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that altered C99 interactions are a common feature of diverse types of PS1 FAD mutants and that also patients with Aβ43-generating FAD mutations could in principle be treated by GSMs.
|
31762188 |
2020 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial Alzheimer's disease (FAD) mutations within the catalytic subunit protein of presenilin 1 (PS1) decrease γ-cleavage, resulting in the generation of toxic, long Aβs.
|
30289529 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
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 |
|
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 |
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 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Binding of FAD significantly decreases protein dynamics and stabilizes the FAD and dicoumarol binding sites as well as the monomer:monomer interface.
|
31726777 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report the generation and characterization of an iPSC line derived from a FAD patient carrying the PSEN1-G206D mutation.
|
31627126 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate that in mice expressing FAD-linked PS1, microglia play a critical role in the regulation of EE-dependent AHNPC proliferation and neurogenesis and the modulation of affective behaviors.<b>SIGNIFICANCE STATEMENT</b> Inheritance of mutations in genes encoding presenilin 1 (PS1) causes familial Alzheimer's disease (FAD).
|
31217332 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Single-point mutations in the genes coding for amyloid precursor protein (APP) and presenilin 1 (PS1), the active subunit of γ-secretase that cleaves APP to produce Aβ, are the main causes of rare but severe familial Alzheimer's disease (fAD).
|
31697913 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production.
|
31053140 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Autophagy Induction by Bexarotene Promotes Mitophagy in Presenilin 1 Familial Alzheimer's Disease iPSC-Derived Neural Stem Cells.
|
31203573 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The novel PSEN1 M139L mutation found in familial AD increases the Aβ42/Aβ40 ratio significantly.
|
30958370 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin1 (PSEN1) cause familial Alzheimer's disease (FAD), providing a special opportunity to study pre-symptomatic individuals who would be predicted to develop Alzheimer's disease (AD) in the future.
|
30599314 |
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 |
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 |
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 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PSEN1 variants represented the largest proportion in Chinese FAD, and PSEN2 variants are responsible for late-onset FAD in China.
|
30822634 |
2019 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin 1 (PS1) gene are a major trigger of familial Alzheimer's disease (AD), yet the mechanisms affected by mutated PS1 causing cognitive decline are not yet elucidated.
|
31467635 |
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 |
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 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Brains from different transgenic strains and ages developed overt cerebral Aβ deposition, including the β-amyloid precursor protein and presenilin 1 double-transgenic (APP/PS1) mice at ~ 14 months of age, the five familial Alzheimer's disease mutations transgenic (5×FAD) mice at ~ 8 months, the triple-transgenic Alzheimer's disease (3×Tg-AD) mice at ~ 22 months, and aged monkeys (Macaca mulatta and Macaca fascicularis) were examined.
|
29690919 |
2018 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
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 |
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.
|
29466804 |
2018 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The presenilin 1 gene harbors the largest number of AD-causing mutations resulting in the late onset familial form of AD.
|
29857474 |
2018 |
|
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Presenilin 1 (PS1) expression in human brain gradually decreases with age and its mutations account for the most common cases of early-onset familial Alzheimer's disease (FAD).
|
30158533 |
2018 |