|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
|
15365148 |
2004 |
|
rs63750264
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
|
15201367 |
2004 |
|
rs63750264
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
|
12034808 |
2002 |
|
rs63750264
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
|
11528419 |
2001 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
|
10677483 |
2000 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |
|
rs63750264
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To determine the effect of apoE on Abeta deposition and AD pathology, we compared APP(V717F) transgenic (TG) mice expressing mouse, human, or no apoE (apoE(-/-)).
|
10694577 |
2000 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
|
10656250 |
1999 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The PDAPP transgenic mouse overexpresses human amyloid precursor protein V717F (PDAPP minigene) and develops age-related cerebral amyloid-beta protein (Abeta) deposits similar to senile plaques in Alzheimer's disease.
|
9278541 |
1997 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
|
9328472 |
1997 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Comparison of neurodegenerative pathology in transgenic mice overexpressing V717F beta-amyloid precursor protein and Alzheimer's disease.
|
8795633 |
1996 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We conclude that this familial AD may originate from the missense mutation 717Val --> Ile in the amyloid precursor protein gene and that the clinical picture is typical of AD, except for normal-pressure hydrocephalus and psychiatric phenomena.
|
8649577 |
1996 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
|
8863158 |
1996 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
|
8577393 |
1995 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A second member of the original family with the valine to isoleucine substitution at codon 717 of the amyloid precursor protein died after the clinical diagnosis of Alzheimer's disease had been made in life.
|
8084541 |
1994 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We present the clinical features and limited neuropathology of AD in these families with the APP 717 Val-->Ile mutation.
|
8247223 |
1994 |
|
rs63750264
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain.
|
7806491 |
1994 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Screening of the mis-sense mutation producing the 717Val-->Ile substitution in the amyloid precursor protein in Japanese familial and sporadic Alzheimer's disease.
|
8410047 |
1993 |