|
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The Lys595-->Asn and Met596-->Leu substitutions found in a pedigree of familial Alzheimer's disease, increased the cathepsin D-catalyzed rate of accumulation of 5.5 kDa and 10-12 kDa C286.8a-reactive fragments 5-10fold.
|
7523115 |
1994 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), the APP gene harbors pathogenic variations such as the Swedish (K670N/M671L), Leuven (E682K), and A673V mutations, all of which decrease Aβ(11-40) generation, whereas the protective Icelandic mutation (A673T) increases generation of Aβ(11-40).
|
27687728 |
2016 |
|
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Critical role of methionine-722 in the stimulation of human brain G-proteins and neurotoxicity induced by London familial Alzheimer's disease (FAD) mutated V717G-APP(714-723).
|
17101228 |
2007 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
These over-express human beta APP(swe), beta-amyloid precursor protein (beta-APP) containing the K670N/M671L 'Swedish' familial Alzheimer's disease (FAD) mutation.
|
15312963 |
2004 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants.
|
11717357 |
2001 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
To accurately examine the effect of missense mutations on APP metabolism and A beta production in vivo, we have introduced yeast artificial chromosomes (YACs) containing the entire approximately 400 kbp human APP gene encoding APP harboring either the asparagine for lysine and leucine for methionine FAD substitution at codons 670 and 671 (APP(K670N/M671L)), the isoleucine for valine FAD substitution at codon 717 (APP(V7171)) or a combination of both substitutions into transgenic mice.
|
9285791 |
1997 |
|
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), three missense mutations, V642I, V642F and V642G, that co-segregate with the disease phenotype have been discovered in the 695 amino acid form of the amyloid precursor protein APP.
|
9305632 |
1997 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion.
|
8867023 |
1996 |
|
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695.
|
8599933 |
1996 |
|
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Seven at risk members of a familial Alzheimer's disease pedigree associated with the amyloid precursor protein 717 valine to glycine mutation underwent serial MR scanning and neuropsychological assessments over 3 years.
|
9010004 |
1996 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production.
|
7695913 |
1995 |
|
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).
|
8461968 |
1993 |
|
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Tau pathology in a case of familial Alzheimer's disease with a valine to glycine mutation at position 717 in the amyloid precursor protein.
|
1465214 |
1992 |
|
rs63749805
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation.
|
30567237 |
2018 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The most prevalent and best characterized fAD mutation in PSEN2 is N141I.
|
30359395 |
2018 |
|
rs17125721
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Prediction results, together with previous reports, suggest a correlation between rs17125721 and AD.
|
28554858 |
2017 |
|
rs17125721
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In the present study, we investigated the influence of nine presenilin 1 (PS1) mutations (P117R, M139V, L153V, H163R, S170F, F177L, I213F, L226F, E318G) on CC and Aβ production in immortalized B-lymphocytes from familial AD (FAD) patients and in stably transfected human embryonic kidney cells.
|
22810102 |
2012 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These in vitro results were confirmed by in vivo experiments in transgenic mice expressing the PS2 N141I FAD mutant.
|
17962197 |
2008 |
|
rs17125721
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We found a significant association (p<0.05, Fisher's exact test) between the presence of PSEN-1 [E318G] and FAD.
|
16952411 |
2007 |
|
rs63749805
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Therefore, PS1 may be involved in neuritogenesis and morphological change in SH-SY5Y cells, and P117L mutation may linked to AD by different mechanisms.
|
17099291 |
2006 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia.
|
16331303 |
2006 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The present study investigated the influence of two familial Alzheimer's-disease-linked presenilin2 variants (N141I and M239V) and a loss-of-function presenilin2 mutant (D263A) on the activity of the transient receptor potential canonical (TRPC)6 Ca(2+) entry channel.
|
15601622 |
2005 |
|
rs63749805
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A neuron-specific enolase (NSE) promoter was used to drive neuronal overexpression of either wild-type human PS1 or the FAD mutant P117L in transgenic mice, and the animals were studied under standard-housing conditions or after environmental enrichment.
|
15246822 |
2004 |
|
rs17125721
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These findings show that the frequency of the Glu318Gly mutation is increased in FAD patients, suggesting a potential role as a genetic risk factor contributing to the pathogenesis of familial AD.
|
12192622 |
2002 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants.
|
11717357 |
2001 |