APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Presenile dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Cellular functions of the amyloid precursor protein from development to dementia. 25710536 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Protective Effect of Notoginsenoside R1 on an APP/PS1 Mouse Model of Alzheimer's Disease by Up-Regulating Insulin Degrading Enzyme and Inhibiting Aβ Accumulation. 25714973 2015
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Meserine, a novel carbamate AChE inhibitor, ameliorates scopolamine-induced dementia and alleviates amyloidogenesis of APP/PS1 transgenic mice. 24279603 2014
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Inhibition of human high-affinity copper importer Ctr1 orthologous in the nervous system of Drosophila ameliorates Aβ42-induced Alzheimer's disease-like symptoms. 23827522 2013
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE β- but not γ-secretase proteolysis of APP causes synaptic and memory deficits in a mouse model of dementia. 22170863 2012
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. 21193246 2012
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human APP/PS1 transgenic mice treated with aluminum: an update of Alzheimer's disease model. 22507317 2012
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. 22514144 2012
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. 22727994 2012
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Effect of early intervention with extract of Huannao Yicong Decoction (还脑益聪方) on the pathologic picture of hippocampus and neurocyte apoptosis in APP transgenic mice model of dementia. 21660677 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human pH-Dependent Cu(II) coordination to amyloid-β peptide: impact of sequence alterations, including the H6R and D7N familial mutations. 21980910 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Increasing the predictive accuracy of amyloid-β blood-borne biomarkers in Alzheimer's disease. 21157020 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Overexpression of DSCAM in Down syndrome (DS) may be involved in the pathogenesis of mental retardation through an inhibitory action on synaptogenesis/neurite outgrowth, and in the precocious dementia associated with an amyloid precursor protein (APP) dosage effect with enhanced plaque formation. 21241773 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Amyloid precursor protein (APP) has been implicated in the pathogenesis of Alzheimer disease, and the accumulation of APP products ultimately leads to the familiar histopathological and clinical manifestations associated with this most common form of dementia. 20225047 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Leptin reduces the accumulation of Abeta and phosphorylated tau induced by 27-hydroxycholesterol in rabbit organotypic slices. 20157255 2010