|
Dementia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of Alzheimer disease.
|
23028126 |
2012 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel APP mutation (E693Δ) that produced a variant Aβ lacking glutamate 22 (E22Δ) in Japanese pedigrees was recently identified to have AD-type dementia without amyloid plaque formation but with extensive intraneuronal Aβ in transfected cells and transgenic mice expressing this deletion.
|
22545812 |
2012 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
A public-private partnership to establish biomarkers of dementia in Down's syndrome could aid the development of preventive therapies for the dementia associated with both Down's syndrome and Alzheimer's disease, based on the apparent common pathogenic role of amyloid precursor protein in the two conditions.
|
22935789 |
2012 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results suggest that sAPPβ and/or β-CTF, rather than Aβ, are the toxic species causing dementia, and indicate that reducing β-cleavage of APP is an appropriate therapeutic approach to treating human dementias.
|
22170863 |
2012 |
|
Dementia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We conclude that miR-195 may play a key role in determining dementia susceptibility in 2VO rats by regulating APP and BACE1 expression at the post-transcriptional level, and exogenous complement of miR-195 may be a potentially valuable anti-dementia approach.
|
23447608 |
2013 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
A phenotype of combined dementia and cerebral microvasculopathy suggested concurrent increases in brain parenchymal and cerebrovascular beta-amyloid peptide (Aβ) deposition in this patient.
|
23931937 |
2014 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Meserine, a novel carbamate AChE inhibitor, ameliorates scopolamine-induced dementia and alleviates amyloidogenesis of APP/PS1 transgenic mice.
|
24279603 |
2014 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
While the exact pathogenesis of AD remains unclear, accumulation of amyloid-β (Aβ) derived from the amyloid precursor protein (APP) in the brain is thought to lead to the neuronal dysfunction and death underlying the dementia.
|
24990930 |
2014 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The levels of miR‑193b, exosomal miR‑193b, Aβ, tau, p‑tau, HCY and APOE in samples from APP/PS1 double‑transgenic mice, mild cognitive impairment (MCI) and dementia of Alzheimer‑type (DAT) patients, were measured.
|
25119742 |
2014 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in Amyloid β Precursor Protein (APP) and in genes that regulate APP processing--such as PSEN1/2 and ITM2b/BRI2--cause familial dementia, such Familial Alzheimer disease (FAD), Familial Danish (FDD) and British (FBD) dementias.
|
26528887 |
2015 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although the precise mechanism remains to be elucidated, our data suggest a possible role for APP in modifying the PD phenotype as well as a general contribution of genetic factors to the development of dementia in individuals with PD.
|
25604855 |
2015 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cellular functions of the amyloid precursor protein from development to dementia.
|
25710536 |
2015 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (Aβ) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS).
|
26651340 |
2016 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Given the absence of PSEN1, PSEN2 and APP causative variants, we investigated whether these 260 patients might be burdened with protein-modifying variants in 20 genes that were previously shown to cause other types of dementia when mutated.
|
26242991 |
2016 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Alzheimer's disease (AD) is the most common cause of dementia and is likely caused by defective amyloid precursor protein (APP) trafficking and processing in neurons leading to amyloid plaques containing the amyloid-β (Aβ) APP peptide byproducts.
|
28360834 |
2017 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
An elderly man with phenotypic DS and partial trisomy of chromosome 21 (PT21) lacked triplication of APP affording an opportunity to study the role of this gene in the pathogenesis of dementia.
|
27983553 |
2017 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Participants from five families with early-onset autosomal-dominant mutations (Swedish and Arctic APP, PSEN1 M146V, H163Y, and I143T) included 35 carriers (28 without dementia and 7 with) and 44 non-carriers.
|
28079014 |
2017 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in amyloid β precursor protein (APP) gene alter APP processing, either causing familial Alzheimer's disease (AD) or protecting against dementia.
|
28626014 |
2017 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Also problematic is the alternative hypothesis that, instead of amyloid plaques, it is oligomers of amyloid precursor protein that cause AD.Evidence is presented suggesting amyloid/oligomers as necessary but insufficient causes of the dementia and that, for dementia to develop, requires the addition of cofactors known to be associated with AD.
|
28509380 |
2018 |
|
Dementia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We review current knowledge on clinical diagnosis and presentation of dementia in DS in comparison with FAD due to APP mutations and APP duplication.
|
28870521 |
2018 |
|
Dementia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We explored how levels of endocytic proteins, APP, its metabolites, secretase enzymes, and tau varied with age in cortical brain samples from men of three age ranges (young [20-30], middle aged [45-55], and old [70-90]) with no symptoms of dementia.
|
28655199 |
2018 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Neuropsychiatric symptoms have been reported as prodromal symptoms of AD-like dementia and soluble forms of beta amyloid peptide (Aβ), the main constituent of insoluble plaques typical of AD brains, have been implicated in such an effect.
|
29879605 |
2018 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Scrutiny of the evidence generated so far reveals and a lack of understanding of the wider APP proteolytic system and how narrow research into the dementia syndrome has been to date.
|
30246866 |
2018 |
|
Dementia
|
0.700 |
Biomarker
|
disease |
BEFREE |
We used immunoassays to measure conventional CSF markers of amyloid and tau pathology (amyloid beta (Aβ)1-42, total tau (T-tau), and phosphorylated tau (P-tau)) as well as amyloid processing (AβX-38, AβX-40, AβX-42, soluble amyloid precursor protein (sAPP)α, and sAPPβ), large fibre axonal degeneration (neurofilament light chain (NFL)), and neuroinflammation (YKL-40) in 245 patients with a variety of dementias and 30 controls.
|
29558979 |
2018 |