PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 Biomarker disease BEFREE The senile plaques (SPs) in the brain are one of the most pathophysiological characteristics of cognitive dysfunction and its major constituent amyloid β (Aβ) released from amyloid precursor protein (APP) by β (BACE1) and γ (presenilin 1) secretases . 29775888 2018
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 Biomarker disease BEFREE The present data indicate that CQ is able to reduce zinc accumulation in the neuritic plaques and inhibit amyloidogenic AβPP processing in the AβPP/PS1 mouse brain. 22269164 2012
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 Biomarker disease BEFREE Mutations in genes encoding amyloid precursor protein (APP) and presenilin 1 and 2 (PSEN1, PSEN2) are associated with increased accumulation of Abeta in neuritic plaques or in the walls of cerebral vessels. 15277614 2004
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701 2004
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE These findings suggest that (1) LB pathology can influence the clinical features of familial AD, (2) the E184D mutation of presenilin-1 may be associated with the LB formation through Abeta overproduction, although the process of LB formation is strongly affected by other unknown mechanisms, (3) in neurodegenerative disorders with LBs, there is a common pathophysiological background inducing NAC accumulation in neuritic plaques and astrocytes, and (4) the NAC accumulation in neuritic plaques is modulated by the abnormally aggregated tau protein. 12410385 2002
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE Screening of familial cases has so far linked four genes to Alzheimer's disease: amyloid precursor protein, presenilin 1, presenilin 2 and apolipoprotein E. Mutations in the amyloid precursor protein, presenilin 1 and presenilin 2 genes cause the enhanced production of b amyloid that is found in neuritic plaques. 12582468 2002
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 AlteredExpression disease BEFREE Consistent with this hypothesis, incorporation of mutant presenilin-1 in APP/Ld mice, which resulted in selectively higher levels of Abeta42, caused an increase in CAA and senile plaques. 11021833 2000
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies. 11126202 2000
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE Microglia and neuritic plaques in familial Alzheimer's disease induced by a new mutation of presenilin-1 gene. An ultrastructural study. 10705645 1999
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 Biomarker disease BEFREE Alzheimer's disease brain showed strong immunoreactivity of presenilin 1 in reactive astrocytes and senile plaques. 10340748 1999
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE All the PS1 and PS2 mutations assessed in this series led to enhanced deposition of total Abeta and Abeta(x-42/43) but not Abeta(x-40) senile plaques in the superior temporal sulcus when compared with brains from sporadic Alzheimer's disease patients. 10468510 1999
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 AlteredExpression disease BEFREE Prominent expression of presenilin-1 in senile plaques and reactive astrocytes in Alzheimer's disease brain. 9831464 1998
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE The PS-1 and apolipoprotein E (ApoE) genotypes, were examined, together with the densities of the senile plaques, senile plaques with dystrophic neurites, and neurofibrillary tangles in the brains from 36 postmortem confirmed patients with sporadic Alzheimer's disease and 86 non-demented subjects. 9576554 1998
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 GeneticVariation disease BEFREE Overexpression of the mutated PS1 gene produced amyloid plaques in the brain of transgenic mice. 9206974 1997
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 Biomarker disease BEFREE Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. 8705854 1996
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.200 Biomarker disease HPO