|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
|
11063718 |
2000 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.
|
11311152 |
2001 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
|
11528419 |
2001 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Although these data open perspectives for therapy of AD by gamma-secretase inhibition, the neuronal absence of PS1 failed to rescue the cognitive defect, assessed by the object recognition test, of the parent APP[V717I] transgenic mice.
|
11978821 |
2002 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
|
12034808 |
2002 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The EFRH phage evoked effective auto-immune antibodies in amyloid precursor protein [V717I] (APP[V717I]) transgenic mice that recapitulate the amyloid plaques and vascular pathology of Alzheimer's disease (AD).
|
12559780 |
2003 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we report on a transgenic mouse line, named Tg-APP (Sw, V717F)/B6, that expresses the human amyloid precursor protein (APP) containing the Swedish and the V717F Indiana mutations in the brains of inbred C57BL/6 mice, designed to eliminate the potential phenotypic variations attributed to the compound genetic backgrounds adopted in most AD mouse models.
|
15114629 |
2004 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
This V642I-APP knock-in mutant line may serve as a model to study the early pathogenic processes of AD in vivo and to develop therapeutics for this stage.
|
15147316 |
2004 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here, we report that both lithium as well as valproic acid (VPA) inhibit beta-amyloid peptide (Abeta) production in HEK293 cells stably transfected with Swedish amyloid precursor protein (APP)(751) and in the brains of the PDAPP (APP(V717F)) Alzheimer's disease transgenic mouse model at clinically relevant plasma concentrations.
|
15170327 |
2004 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
|
15201367 |
2004 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
|
15365148 |
2004 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Transgenic mice over-expressing a mutated form of the human amyloid precursor protein (APP, 695 isoform) bearing a mutation associated with Alzheimer's disease (V642I, so-called London mutation, hereafter APPLd2) and wild-type controls were studied at age periods (3 and 10 months) prior to the overt development of neuritic amyloid plaques.
|
15380017 |
2004 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In a "combined" model, expressing both tau(V337M) and the familial amyloid precursor protein AD mutation APP(V717I) in a CT100 fragment, age-dependent tau phosphorylation occurred at the same sites and was significantly augmented compared to "single" tau(V337M) mice.
|
15601849 |
2005 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We report the effects of amyloid precursor protein (APP) fragment 714-723 (APP(714-723); peptide P1) and its V717F and V717G mutants (peptides P2 and P3, respectively) on G-protein activity ([35S]GTPgammaS binding) in membranes from postmortem human control and Alzheimer's disease (AD) brains.
|
15614786 |
2005 |
|
rs63750264
|
|
Alzheimer's Disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Levels of both APP-BP1 and Rab5 are elevated in early endosomes in cortical embryonic neurons expressing APP(V642I) or APP-BP1, in cultured skin fibroblast cells from Down syndrome subjects, and in postmortem hippocampal tissue of individuals with AD.
|
17611268 |
2007 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Further, overexpression of the SUMO E2 enzyme ubc9 along with SUMO-1 results in decreased levels of Abeta aggregates in cells transfected with the familial Alzheimer's disease-associated V642F mutant APP, indicating the potential of up-regulating activity of the cellular sumoylation machinery as an approach against Alzheimer's disease.
|
18675254 |
2008 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We recently demonstrated that overexpression of ADAM10 in mice transgenic for human AbetaPP (ADAM10 x APP[V717I]) alleviated functional deficits related to Alzheimer's disease.
|
19221420 |
2009 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase.
|
19281847 |
2009 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
To investigate the regulatory genes responsible for the neuropathology in AD, we performed microarray analysis with APP(V717I)-CT100 transgenic mice, an animal model of AD, and isolated the S100a9 gene, which encodes an inflammation-associated calcium binding protein.
|
20098622 |
2010 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
An early-onset AD transgenic mouse model expressing the double-mutant form of human amyloid precursor protein (APP); Swedish (K670N/M671L) and Indiana (V717F), corroborated in vitro findings by showing lower levels of Aβ and amyloid plaques in the brain, when they were fed a low fat diet enriched in DHA.
|
20971855 |
2011 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Preventing Alzheimer's disease and cognitive decline.
|
21500874 |
2010 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this study, we report a 275341 G > C (Val717Leu) mutation in the APP gene in a Japanese family with early onset AD by genetic screening.
|
22702962 |
2012 |