APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 GeneticVariation disease BEFREE The aim of the present study was to examine acetylation of histone H4 at lysine 12 (H4K12) in monocytes in two transgenic AD mouse models (the triple transgenic 3xTg and a model overexpressing amyloid-precursor protein APP with the Swedish-Dutch-Iowa mutations), and to compare with monocytes isolated from human patients with mild cognitive impairment (MCI) and AD. 26159193 2015
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 Biomarker disease BEFREE There was a significant positive correlation between sAPPα and sAPPβ levels in all three groups. sAPPα and sAPPβ concentrations were higher in patients with mild cognitive impairment compared with patients with AD. 22055653 2012
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 GeneticVariation disease BEFREE PADK also reduced amyloidogenic peptides and α-synuclein in correspondence with restored synaptic markers, and both synaptic and cognitive measures were improved in the APP/PS1 and MCI models. 31505809 2019
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 GeneticVariation disease BEFREE Potential in vivo amelioration by N-acetyl-L-cysteine of oxidative stress in brain in human double mutant APP/PS-1 knock-in mice: toward therapeutic modulation of mild cognitive impairment. 20648652 2010
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
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: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 GeneticVariation disease BEFREE Here, a transgenic rat (TgF344-AD) expressing disease-causing mutant amyloid precursor protein (APPsw) and presenilin-1 (PS1ΔE9) was characterized for histological and behavioural signs of locus coeruleus dysfunction reminiscent of mild cognitive impairment/early Alzheimer’s disease. 29053824 2017
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 Biomarker disease BEFREE The sortilin-related receptor 1 (SORL1) gene, regulating the trafficking and recycling of amyloid precursor protein, has been related to Alzheimer's disease (AD) and mild cognitive impairment (MCI). 28034305 2016
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 Biomarker disease BEFREE BACE1 activity and sAβPPβ concentration were measured in patients with AD dementia (n = 56) and mild cognitive impairment (MCI) due to AD (n = 76) with abnormal routine AD CSF markers, in patients with MCI with normal CSF markers (n = 39), and in controls without preclinical AD (n = 48). 29788013 2018
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 Biomarker disease CTD_human Exposure to As-, Cd-, and Pb-mixture induces Aβ, amyloidogenic APP processing and cognitive impairments via oxidative stress-dependent neuroinflammation in young rats. 25288670 2015
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 Biomarker disease BEFREE Here we tested the hypothesis that chronic pain accelerates the transition from normal cognition to mild cognitive impairment (MCI) in 5-month-old transgenic APP/PS1 mice, an animal model of Alzheimer's disease (AD), and that neurotoxicity induced by N-methyl-D-aspartic acid receptor (NMDAR) subunits may be involved in this process. 28553223 2017
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 Biomarker disease BEFREE Proteomic analysis of brain proteins in APP/PS-1 human double mutant knock-in mice with increasing amyloid β-peptide deposition: insights into the effects of in vivo treatment with N-acetylcysteine as a potential therapeutic intervention in mild cognitive impairment and Alzheimer's disease. 21954051 2011
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.400 GeneticVariation disease BEFREE To determine the spectrum of mutations in a group consisting of 40 Polish patients with clinically diagnosed familial EOAD and 1 patient with mild cognitive impairment (MCI) and family history of AD, we performed a screening for mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP) genes. 14769392 2003