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: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE SH-SY5Y neuroblastoma cells transfected with the amyloid precursor protein (APP) gene containing the Swedish mutations causing familial AD (APPswe), were used as a model to explore the effect of pathology on 5-HT1B and related molecules including the receptor adaptor protein (p11), SERT and MAOA gene expression, and MAOA activity after treatment with selective serotonin reuptake inhibitor (SSRI) (sertraline), and a 5-HT1B receptor antagonist. 27163814 2016
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE The γ-secretase-mediated cleavage of the APP C-terminal membrane stub leads to the production of various amyloid β (Aβ) species. 28332150 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Here, [18F]-FDG positron emission tomography was used to study age-related changes of cerebral glucose utilization under resting conditions in 3-, 6-, and 12-month-old APP(SweLon)/PS1(M146L), a mouse model of amyloidosis. 22079157 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Amyloid is mainly composed by amyloid-beta (A(beta)) peptides, which are derive from processing of the beta-amyloid precursor protein (APP), better named amyloid-beta precursor protein (A(beta)PP), by secretases. 15983050 2005
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Mutations in the beta-amyloid (Abeta) sequence of the amyloid precursor protein gene (APP) present with variable disease phenotypes. 12505425 2002
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Point mutations of APP affecting production are found to be causal for hereditary early onset familial AD. 21769132 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Previously, we have documented that prenatal hypoxia can aggravate the cognitive impairment and Alzheimer's disease (AD) neuropathology in APP(Swe) /PS1(A246E) (APP/PS1) transgenic mice, and valproic acid (VPA) can prevent hypoxia-induced down-regulation of β-amyloid () degradation enzyme neprilysin (NEP) in primary neurons. 24289518 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE We orally administered the flavonoid tannic acid (TA) to the transgenic PSAPP mouse model of cerebral amyloidosis (bearing mutant human APP and presenilin-1 transgenes) and evaluated cognitive function and AD-like pathology. 22219198 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease LHGDN E22Q-mutant Abeta peptide (AbetaDutch) increases vascular but reduces parenchymal Abeta deposition. 19218342 2009
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Microglial activity decreases relative to ongoing amyloidosis with aging in APP-SL70 mice. 30400912 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Differential processing of the amyloid precursor protein liberates either amyloid-ß, a causative agent of Alzheimer's disease, or secreted amyloid precursor protein-alpha (sAPPα), which promotes neuroprotection, neurotrophism, neurogenesis and synaptic plasticity. 23742273 2013
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Novel APP K724M mutation causes Chinese early-onset familial Alzheimer's disease and increases amyloid-β42 to amyloid-β40 ratio. 25018108 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). 11004129 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE We found that synaptic depression induced by oxygen glucose deprivation (OGD) was enhanced in EC slices either in presence of synthetic oligomeric or in slices from mutant human amyloid precursor protein transgenic mice (mhAPP J20). 24966375 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid () region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer's disease. 24252272 2013
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Differential expression of the amyloid precursor protein gene (APP) may be important in the development of amyloidosis in Alzheimer's disease (AD) and experimentally in the brain's response to injury. 10675649 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Further experimentation confirmed that in CHO cells expressing APPswe or wild-type APP (APPwt), co-expression of LRP1-CT C4408R decreases and increases sAPPα and α-CTF compared with co-expression of wild-type LRP1-CT. 28612181 2017
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE This is the first report to show decreased levels in plasma in APP A673T carriers and thus provides evidence that lower levels throughout life may be protective against AD.Ann Neurol 2017;82:128-132. 28556232 2017
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE They were not co-labeled with two C-terminal antibodies (Ter40, Ter42), nor associated with extracellular amyloidosis. 22542680 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Presenilin mediates the proteolytic cleavage of the β-amyloid precursor protein to release β-amyloid, and mutations in presenilin can cause familial Alzheimer disease. 21239495 2011
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Here, we show that absence of TYROBP/DAP12 in a mouse model of AD-type cerebral Aβ amyloidosis (APP<sup>KM670/671NL</sup>/PSEN1<sup>Δexon9</sup>) recapitulates the expected network characteristics by normalizing the transcriptome of APP/PSEN1 mice and repressing the induction of genes involved in the switch from homeostatic microglia to disease-associated microglia (DAM), including Trem2, complement (C1qa, C1qb, C1qc, and Itgax), Clec7a and Cst7. 30283032 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE After 7 months of dietary intervention, we found that fish oil supplementation improved behavioral performance, alleviated brain beta-amyloid () plaque burden, and attenuated the oxidative stress in APP/PS1 mice by increasing cortical GSH content and total antioxidant capacity, as well as by decreasing MDA level. 29656360 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Neurons from mutant hiPSC lines express PSEN1-A246E mutations themselves and show AD-like biochemical features, that is, amyloidogenic processing of amyloid precursor protein (APP) indicated by an increase in β-amyloid ()42/Aβ40 ratio. 25027006 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Studies of the beta-amyloid precursor protein (APP), which gives rise to beta-amyloid, are rapidly leading to a better understanding of the biochemical basis of the disease--a prerequisite for rational drug development. 8140621 1994
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE The different metabolites generated from these pathways, including soluble APPα (sAPPα), soluble APPβ (sAPPβ), β-amyloid () peptides and the APP intracellular domain (AICD), have different functions determined by their structural differences, equilibrium and concentration with respect to other fragments derived from APP. 29383688 2018