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: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human Hypothesis for a common basis for neuroprotection in glaucoma and Alzheimer's disease: anti-apoptosis by alpha-2-adrenergic receptor activation. 12852432 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human Solution 1H NMR investigation of Zn2+ and Cd2+ binding to amyloid-beta peptide (Abeta) of Alzheimer's disease. 16266835 2006
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease BEFREE Therefore, we exposed an AD-relevant mouse model (APP/PS1 KI) to chronic intermittent hypoxia (IH) (an experimental model of sleep apnea) to begin to describe one of the potential mechanisms by which SDB could increase the risk of dementia. 30529693 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human Aβ40 oligomers identified as a potential biomarker for the diagnosis of Alzheimer's disease. 21209907 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE We have used the powerful technique of denaturing gradient gel electrophoresis to screen for mutations in exons 7, 16 and 17 of the APP gene in a cohort of 105 patients with presenile dementia of the Alzheimer type and 71 patients with autopsy-confirmed senile Alzheimer's disease. 8321254 1993
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human Early effects of aluminum chloride on beta-secretase mRNA expression in a neuronal model of beta-amyloid toxicity. 20111991 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE The E693Delta mutation within the amyloid precursor protein (APP) has been suggested to cause dementia via the enhanced formation of synaptotoxic amyloid beta (Abeta) oligomers. 19164507 2009
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human High performance plasma amyloid-β biomarkers for Alzheimer's disease. 29420472 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease BEFREE A significant component of memory loss in APP transgenic mice is apparently caused by soluble A Beta assemblies, but whether and how much of the dementia within individuals afflicted with AD is caused by these A Beta species is unclear. 11773429 2002
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human Curcumin inhibits formation of amyloid beta oligomers and fibrils, binds plaques, and reduces amyloid in vivo. 15590663 2005
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE The dementia in patients with the APP692 mutation was compatible with Alzheimer's disease both clinically and neuropathologically. 11004129 2000
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease CTD_human "How and when environmental agents and dietary factors affect the course of Alzheimer's disease: the ""LEARn"" model (latent early-life associated regulation) may explain the triggering of AD." 17430250 2007
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE Ischemic lesions are characteristic of several hereditary CAA syndromes, including a recently described mutation of the amyloid precursor protein associated with dementia (but not hemorrhagic stroke) in an Iowa family. 11901242 2002
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease BEFREE We suggest instead that APP normally functions in the brain as a cell surface signaling molecule, and that a disruption of this normal function of APP is at least one cause of the neurodegeneration and consequent dementia in AD. 11119687 2000
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 GeneticVariation disease BEFREE Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene. 15365148 2004
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.400 Biomarker disease BEFREE The evidence that a pathogenic APP mutation causes an early enhancement of BAD-Glu suggests that alterations of BACE1 processing of APP in glutamatergic synaptic vesicles could contribute to dementia. 31496118 2019
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 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 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 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 Biomarker disease BEFREE The purpose of this study was to examine the association between cognitive function and several serum miRNAs levels related to amyloid precursor protein (APP) proteolysis in a Japanese general population who had never been diagnosed with dementia. 30802839 2020
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