|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
We studied a new amyloid-beta precursor protein (<i>App</i>) knock-in mouse model of Alzheimer's disease (<i>App<sup>NL-G-F</sup></i> ), containing the Swedish KM670/671NL mutation, the Iberian I716F mutation and the Artic E693G mutation, which generates elevated levels of amyloid beta (Aβ)<sub>40</sub> and Aβ<sub>42</sub> without the confounds associated with APP overexpression.
|
31439589 |
2019 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
Here we demonstrate the utility of a robust, cost-optimized cell-free expression technique for production of the physiologically important transmembrane fragment of amyloid precursor protein, APP686-726, containing Alzheimer's disease mutations in the juxtamembrane (E693G, Arctic form) and the transmembrane parts (V717G, London form, or L723P, Australian form).
|
27071311 |
2016 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
In a transgenic (Tg) mouse model of AD expressing amyloid precursor protein (APP) with the arctic (E693G) mutation, pathology spreads along anatomically connected structures.
|
24517102 |
2014 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
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
|
|
0.790 |
GeneticVariation
|
BEFREE |
The Arctic APP mutation (E693G) within the amyloid β (Aβ) domain of amyloid precursor protein (APP) leads to dementia with clinical features similar to Alzheimer's disease (AD), which is believed to be mediated via increased formation of protofibrils.
|
21880397 |
2012 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
The Arctic (p. E693G) mutation in the amyloid-β precursor protein (AβPP) facilitates amyloid-β (Aβ) protofibril formation and generates clinical symptoms of Alzheimer's disease (AD).
|
22118948 |
2012 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation.
|
19329229 |
2011 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
In contrast, the Arctic mutation (APP E693G) results in Alzheimer's disease.
|
17448150 |
2007 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
BEFREE |
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
|
11528419 |
2001 |
|
Alzheimer's Disease
|
|
0.790 |
GeneticVariation
|
UNIPROT |
|
|
|
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Alzheimer disease type 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Arctic APP mutation (E693G) within the amyloid β (Aβ) domain of amyloid precursor protein (APP) leads to dementia with clinical features similar to Alzheimer's disease (AD), which is believed to be mediated via increased formation of protofibrils.
|
21880397 |
2012 |
|
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Arctic APP mutation (E693G) within the amyloid β (Aβ) domain of amyloid precursor protein (APP) leads to dementia with clinical features similar to Alzheimer's disease (AD), which is believed to be mediated via increased formation of protofibrils.
|
21880397 |
2012 |
|
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation.
|
19329229 |
2011 |
|
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation.
|
19329229 |
2011 |
|
Amyloidosis
|
|
0.010 |
GeneticVariation
|
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 |
|
Familial Alzheimer Disease (FAD)
|
|
0.010 |
GeneticVariation
|
BEFREE |
The main reason for this is their implication in familial Alzheimer's disease with the Arctic amyloid precursor protein mutation (E693G).
|
16817891 |
2006 |
|
Alzheimer Disease, Early Onset
|
|
0.010 |
GeneticVariation
|
BEFREE |
The E693G (Arctic) mutation of the amyloid precursor protein was recently found to lead to early-onset Alzheimer's disease in a Swedish family.
|
12052536 |
2002 |