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 |
These data suggest that PSEN2 K115Efs*11 is a likely pathogenic variant associated with AD.
|
31020001 |
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 |
Biomarker
|
disease |
BEFREE |
By generating novel tools for measuring Ca<sup>2+</sup> in living cells, and combining different approaches, we showed that FAD-linked PS2 mutants significantly alter cell Ca<sup>2+</sup> signaling and brain network activity, as summarized below.
|
31606858 |
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 |
Biomarker
|
disease |
BEFREE |
A Review of the Familial Alzheimer's Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1.
|
30412492 |
2018 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
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 |
A major cause underlying familial Alzheimer's disease (AD) are mutations in presenilin proteins, presenilin 1 (PS1) and presenilin 2 (PS2).
|
29857474 |
2018 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most prevalent and best characterized fAD mutation in PSEN2 is N141I.
|
30359395 |
2018 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the human genes PRESENILIN1 (PSEN1), PRESENILIN2 (PSEN2) and AMYLOID BETA A4 PRECURSOR PROTEIN (APP) have been identified in familial Alzheimer's disease (AD).
|
28636676 |
2017 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
We examine the significance of the "fAD mutation reading frame preservation rule" that applies to PSEN1 and PSEN2 (and AβPP) and look at alternative roles for AβPP and Aβ in fAD.
|
27060961 |
2016 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thus missense, splice site or duplication mutants in the presenilin 1 (PS1), presenilin 2 (PS2) or the amyloid precursor protein (APP) genes, which alter the levels or shift the balance of Aβ produced, are associated with rare, highly penetrant autosomal dominant forms of Familial Alzheimer's Disease (FAD).
|
25748120 |
2015 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in APP, PSEN1 and PSEN2 as the genetic causes of familial Alzheimer's disease (FAD) have been found in various ethnic populations.
|
25694106 |
2015 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Of nearly 200 PRESENILIN mutations causing early onset, familial Alzheimer's disease (FAD) only the K115Efx10 mutation of PSEN2 causes truncation of the open reading frame.
|
25814654 |
2015 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant familial Alzheimer's disease (AD) is associated with mutations in the AβPP, PSEN1, and PSEN2 genes.
|
25182745 |
2015 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial Alzheimer's disease (FAD) resulting from gene mutations in PSEN1, PSEN2 and APP is associated with changes in the brain.
|
25639959 |
2015 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Overall, the mutations involving the PSEN2 gene represent an extremely rare cause of FAD, having been reported to date in less than 200 cases.
|
24594196 |
2014 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in PS1, PS2, and Aβ protein precursor are involved in the etiology of familial Alzheimer's disease (FAD), while the cause of the sporadic form of AD (SAD) is still not known.
|
24363250 |
2014 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the presenilin (PSEN1, PSEN2) and amyloid precursor protein (APP) genes cause familial Alzheimer's disease (FAD) in a nearly fully penetrant, autosomal dominant manner, providing a unique opportunity to study presymptomatic individuals who can be predicted to develop Alzheimer's disease (AD) with essentially 100% certainty.
|
23085935 |
2013 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss.
|
22531416 |
2012 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we generate iPSCs from fibroblasts of FAD patients with mutations in PS1 (A246E) and PS2 (N141I), and characterize the differentiation of these cells into neurons.
|
21900357 |
2011 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Roughly 5% of patients with Alzheimer disease have familial Alzheimer disease--that is, related to a genetic predisposition, including mutations in the amyloid precursor protein, presenilin 1, and presenilin 2 genes.
|
21779722 |
2011 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
The subcellular localization of presenilin-1 (PS1) and presenilin-2 (PS2), two proteins that, when mutated, cause familial Alzheimer's disease (AD), is controversial.
|
20421691 |
2010 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in presenilin-1 and presenilin-2 (PS1 and PS2) are the most common cause of familial Alzheimer disease.
|
20460383 |
2010 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations of three different genes, encoding β-amyloid precursor protein (APP), presenilin 1 and presenilin 2 are associated with familial Alzheimer's disease (AD).
|
20842367 |
2010 |