Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germ line mutations in three genes have been detected in patients with familial Alzheimer's disease (FAD) and sporadic, early onset disease: amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2).
|
9781063 |
1998 |
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 |
GeneticVariation
|
disease |
BEFREE |
We found that exogenous expression of the PS1-NTF or PS2-NTF harboring FAD mutations was insufficient for increased production of amyloidogenic A beta X-42 peptide and that the overexpressed NTFs had no effect on the accumulation of endogenous presenilin fragments.
|
10076867 |
1999 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data suggest that the determinants of the PS2 cleavage site reside within a large region and that the pathological function of PS2 is exerted by familial Alzheimer's disease mutations not related to the cleavage of holoproteins.
|
10652366 |
2000 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three genes have been identified which, when mutated, cause Familial Alzheimer disease (FAD): the presenilin-1 (PS1), the presenilin-2 (PS2) and the amyloid precursor protein (APP) genes.
|
15975068 |
2004 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A PS2 mutation associated with familial Alzheimer's disease was found to generate a molecule with enhanced basal apoptotic activity.
|
8939861 |
1996 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Although some investigators have shown that mutant PS1 processing is unaltered (with the exception of PS1-deltaE9, which lacks the cleavage site) in stably transfected cells and PS1-FAD transgenic mice, other investigators have reported altered FAD mutant PS1 and PS2 protein processing in transiently transfected cells and human FAD patients.
|
10386952 |
1999 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Presenilin-2 is one of the causative genes for familial Alzheimer's disease (FAD).
|
17727891 |
2008 |
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 |
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 |
Mutations in the presenilin 1 (PS1) and presenilin 2 genes cosegregate with the majority of early-onset familial Alzheimer's disease (FAD) pedigrees.
|
8938131 |
1996 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Presenilin-1 (PS1) and presenilin-2 (PS2) are associated with a majority of early onset familial Alzheimer's disease (FAD).
|
9106743 |
1997 |
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 |
96, 1391-1396) suggests that it is a regulated physiological event that also occurs in the absence of the familial Alzheimer's disease-associated mutations in PS2.
|
11278424 |
2001 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To determine whether the presenilin 1 (PS1), presenilin 2 (PS2) and amyloid beta-protein precursor (APP) mutations linked to familial Alzheimer's disease (FAD) increase the extracellular concentration of amyloid beta-protein (A beta) ending at A beta 42(43) in vivo, we performed a blinded comparison of plasma A beta levels in carriers of these mutations and controls.
|
8705854 |
1996 |
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 |
AlteredExpression
|
disease |
BEFREE |
Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.
|
8661049 |
1996 |
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 |
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 |
The varied ways in which mutations in presenilins (PSEN1 and PSEN2) affect amyloid b precursor protein (APP) processing in causing early-onset familial Alzheimer disease (FAD) are complex and not yet properly understood.
|
16752394 |
2006 |
Familial Alzheimer Disease (FAD)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes that encode the presenilin 1 and 2 (PS1 and PS2) proteins cause the majority of familial Alzheimer's disease (FAD).
|
11731004 |
2001 |
Familial Alzheimer Disease (FAD)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results suggest (i) that, in contrast to mutations in PS-1, mutations in PS-2 are a relatively rare cause of FAD; (ii) that other genetic or environmental factor modify the AD phenotype associated with PS-2 mutations; and (iii) that still other FAD susceptibility genes remain to be identified.
|
8817335 |
1996 |
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 |