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 GeneticVariation disease BEFREE We now report, a novel base mutation in the same exon of the APP gene which co-segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy. 1303239 1992
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Following reports of mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene in early-onset familial Alzheimer's disease, we screened exon 17 for new mutations in presenile dementia. 1307241 1992
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Vitamin E protects nerve cells from amyloid beta protein toxicity. 1497677 1992
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712 1991
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE The progressive deposition of the beta-amyloid peptide in the brain and its microvasculature is an invariant feature of Alzheimer's disease that appears to precede the onset of dementia by many years. 7504355 1993
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Since the report of a double mutation at codons 670 and 671 of the amyloid precursor protein (APP) gene identified in two Swedish families with clinically diagnosed Alzheimer's disease (AD), a carrier with dementia has died. 8028788 1994
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Deposition of beta-amyloid peptide in the brain is an early event in Alzheimer's disease, the most common cause of dementia. 8140621 1994
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 GeneticVariation disease BEFREE Hereditary cerebral hemorrhage with amyloidosis, Dutch type, caused by a mutation at codon 693 of the amyloid beta precursor protein gene, is characterized by amyloid beta deposition resulting in recurrent strokes and dementia. 9225691 1997
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE However, one patient with a mutation in the APP gene did harbour a novel mtDNA mutation (G to C at position 5705 in the tRNAAsn gene) that might have contributed to the very early onset of dementia in this individual. 9425253 1997
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 Biomarker disease BEFREE We will focus on the regulation of beta-APP cleavage through diverse signal transduction mechanisms and discuss possible points of therapeutic intercession in what has been postulated to be a seminal molecular step in the cascade of events terminating in the onset of dementia, loss of neurons, and eventual death from Alzheimer's disease. 10702374 2000
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 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 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 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 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 AlteredExpression disease BEFREE Factors which influence Abeta levels, rather than overexpression of APP, may account for the differences in age at onset of dementia in Down's syndrome. 11983636 2002
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Metalloenzyme-like activity of Alzheimer's disease beta-amyloid. Cu-dependent catalytic conversion of dopamine, cholesterol, and biological reducing agents to neurotoxic H(2)O(2). 12192006 2002
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Alzheimer's disease (AD) is the most common cause of dementia that arises on a neuropathological background of amyloid plaques containing beta-amyloid (A beta) derived from amyloid precursor protein (APP) and tau-rich neurofibrillary tangles. 12223532 2002
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Copper reduction by copper binding proteins and its relation to neurodegenerative diseases. 12572668 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease CTD_human Impaired modulation of GABAergic transmission by muscarinic receptors in a mouse transgenic model of Alzheimer's disease. 12746438 2003
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 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