|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
RFLP analysis for APP 717 mutations associated with Alzheimer's disease.
|
7686976 |
1993 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain.
|
10671319 |
2000 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer's disease (AD), the most common neurodegenerative disorder, is characterized by cerebral deposition of amyloid-β (Aβ), a series of peptides derived from the processing of the amyloid-β precursor protein (APP).
|
21357679 |
2011 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This review considers the three loci which have been shown to be associated with early-onset AD: amyloid precursor protein, presenilin (PS)-1 and PS-2.
|
9316155 |
1997 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
An in vitro and in vivo study of early deficits in associative learning in transgenic mice that over-express a mutant form of human APP associated with Alzheimer's disease.
|
15380017 |
2004 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer's disease.
|
24252272 |
2013 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The main constituent of senile plaques is amyloid beta-peptide (A beta) and in recent years, pathogenic mutations in the amyloid precursor protein (APP) gene have been discovered in some AD families.
|
8577398 |
1995 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The regulated miRNAs (assessed by both methods) were related to neurological disorders, including targets for Alzheimer's disease (e.g., β-site amyloid precursor protein APP-cleaving enzyme 1 [BACE1], translocase of outer mitochondrial membrane 40 homolog [TOMM40], neuron navigator 3 [NAV3]).
|
28026009 |
2017 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, reduced nuclear mSREBP-2 was only found in animal models of tauopathies such as 3XTg AD mice and P301L Tau Tg mice but not in CRND8 APP transgenic mice, suggesting that tau alterations likely are involved in the changes of mSREBP-2 distribution and activation in AD.
|
30515907 |
2019 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Among the most commonly used models are transgenic mice overexpressing human amyloid precursor protein (APP) with mutations linked to familial AD, resulting in the formation of amyloid β plaques, one of the pathological hallmarks observed in AD patients.
|
31705038 |
2019 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein.
|
1925564 |
1991 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A detrimental APP mutation at the β-secretase cleavage site linked to early-onset AD found in a Swedish pedigree enhances Aβ production, in contrast to a beneficial mutation 2 residues away in APP that reduces Aβ production and protects against the onset of sporadic AD.
|
27135718 |
2016 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It is not known whether the coaggregation of tau and α-synuclein in dominantly inherited AD occurs in association with specific mutations of the APP, PSEN1, or PSEN2 genes.
|
31165862 |
2019 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cotransduction of AAV-tetracycline-controlled transactivator (tTA) and AAV-tet-response element (TRE)-CD74 resulted in CD74 expression, reduced Aβ production in mouse neurons containing the human APP with familial AD-linked mutations.
|
26227349 |
2015 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The only specific molecular defects that cause Alzheimer's disease which have been identified so far are missense mutations in the gene encoding the beta-amyloid precursor protein (beta-APP) in certain families with an autosomal dominant form of the disease (familial Alzheimer's disease, or FAD).
|
1465129 |
1992 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
At present, most of our knowledge about the function of APP comes from consequences of AD-related mutations.
|
22006270 |
2012 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Amyloid precursor protein mutation disrupts reproductive experience-enhanced normal cognitive development in a mouse model of Alzheimer's disease.
|
23853041 |
2014 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the amyloid precursor protein gene (APP) are found in familial forms of Alzheimer's disease (AD) and some lead to the elevated production of amyloid-beta-protein (Abeta).
|
19997607 |
2009 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have identified three mutations at APP codon 717 which are pathogenic for Alzheimer disease (AD).
|
1415269 |
1992 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Advanced age and mutations in the genes encoding amyloid precursor protein (APP) and presenilin (PS1) are two serious risk factors for Alzheimer's disease (AD).
|
18716656 |
2008 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
LCLs were transduced by viral vectors expressing causative AD mutations in APP or human full-length wild type Tau.
|
29516269 |
2018 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigated the <i>in vitro</i> kinetics of a microbial intramembrane aspartyl protease (mIAP) fortuitously acting on the renin substrate angiotensinogen and the C-terminal transmembrane segment of amyloid precursor protein (C100), which is cleaved by the presenilin subunit of γ-secretase, an Alzheimer disease (AD)-associated IAP. mIAP variants with substitutions in active-site and putative substrate-gating residues generally exhibit impaired, but not abolished, activity toward angiotensinogen and retain the predominant cleavage site (His-Thr).
|
29382721 |
2018 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part.
|
26243569 |
2015 |
|
Alzheimer's Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Thus this mutant beta APP may cause AD because its processing is altered in a way that releases increased amounts of A beta.
|
8424174 |
1993 |