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 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 AlteredExpression disease BEFREE Moreover, as activation of δ-opioid receptor by a non-peptidic δ-opioid receptor agonist also modulates the expression, maturation and processing of amyloid precursor protein and β-secretase activity, the potential role of these effects on ischemic stroke caused dementia or Alzheimer's disease are also discussed. 31535637 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE The most common familial early onset dementia mutations are found in the genes involved in Alzheimer's disease; the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and 2) genes; the prion protein gene (PRNP) may be involved. 15258222 2004
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is a rare autosomal dominant disorder caused by an amyloid-beta precursor protein (AbetaPP) 693 mutation that clinically leads to recurrent hemorrhagic strokes and dementia. 14678776 2003
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 GeneticVariation disease BEFREE We report a mutation at a novel site in APP in a three-generation Iowa family with autosomal dominant dementia beginning in the sixth or seventh decade of life. 11409420 2001
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 Cystatin isolated from chicken egg white, called ovocystatin, has been widely used in the medical and pharmaceutical research due to its structural and biological similarities to human cystatin C. The aim of this study was to assess the effect of administering ovocystatin on the development of dementia-specific cognitive deficits in APP/PS1 transgenic mice. 30504006 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Transmembrane proteins BRI2 and amyloid precursor protein (APP) co-localize with amyloid beta (Abeta) lesions in sporadic Alzheimer disease and mutations in both precursor proteins are linked to early-onset familial cases of cerebral amyloidosis associated with dementia and/or cerebral hemorrhage. 16027166 2005
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 AlteredExpression disease BEFREE Since phosphorylation/dephosphorylation mechanisms are crucial in the regulation of Tau and beta-APP, a superfamily of mitogen-activated protein kinases (MAPKs) has recently emerged as key regulators of the formation of plagues, eventually leading to dementia and AD. 15312913 2004
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 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Here frame-shift ubiquitin-B and amyloid precursor protein were immunochemically shown to exist in the brain of high pathology control (HPC) patients with AD pathology but without prior dementia. 12893422 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		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: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE AMY plaques are consistently present in familial AD due to presenilin-1 (PS-1), PS-2, and amyloid precursor protein mutations, and they can begin to accumulate before the emergence of dementia. 10636133 2000
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Even though the idea that amyloid beta peptide accumulation is the primary event in the pathogenesis of Alzheimer's disease has become the leading hypothesis, the causal link between aberrant amyloid precursor protein processing and tau alterations in this type of dementia remains controversial. 16125396 2005
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 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 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 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 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 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 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