HUGO ID Detailed Result 9508


HUGO ID 9508
Symbol PSEN1
Name presenilin 1 (Alzheimer disease 3)
#Occurrence 34
#Paper 5

 


PMID Match String Actual String Score Flanking text Edited by Edit
11173059PS1PS-14.7for by mutations of the amyloid precursor protein presenilin-1 (PS-1), PS-1 or presenilin-2 gene (PS-2) PS-2 ( Rosenberg 2000 
11173059PS1PS-14.7The PS-1 gene locates on chromosome 14q24.3 and mutations in this gene 
11173059PS1PS-14.7PS-1 codes for a 467-amino acid protein that is an integral 
11173059PS1PS-14.7PS-1 function is not entirely known but it may be involved 
11173059PS1PS-14.7More than 60 mutations of the PS-1 gene have been associated with early-onset familial Alzheimer disease and 
11173059PS1PS-14.7for a 448-amino acid protein sharing 67% sequence homology with PS-1 protein 
11173059PS1PS-14.7The high degree of sequence homology between PS-1 and PS-2 protein implies similar functions and indirect evidence suggests 
11173059PS1PS-14.7on the hypothesis that missense mutations of amyloid precursor protein PS-1 and PS-2 genes may share a common pathogenetic mechanism finally 
11173059PS1PS-14.7Homozygotic polymorphism at the level of intron 8 of the PS-1 gene was first reported to double the risk of late-onset 
11173059PS1PS-14.7others did not and a meta-analysis concluded that such a PS-1 gene polymorphism is only slightly associated with Alzheimer disease ( 
11173059PS1PS-14.7Other polymorphisms in the 5_amp_#x2032 regulatory region of the PS-1 gene have also been detected and are associated with a 
11173059PS1PS-14.7Alzheimer disease probably mediated by an altered expression of the PS-1 protein ( van Duijn et al. 1999 
11173059PS1PS10.9with Alzheimer disease carrying mutations of the amyloid precursor protein PS1 or PS2 gene 
11173059PS1PS-14.7In addition mutated PS-1 may promote apoptosis independently of _amp_#x3b2 -amyloid protein intervention by 
14739060PSEN1PSEN10.9_amp_#x3b2 -amyloid precursor protein as well as presenilin 1 (PSEN1) PSEN1 and presenilin 2 (PSEN2) PSEN2 
15210305PS1PS10.6The amyloid precursor protein/presenilin-1 protein presenilin-1 (APP+PS1) APP PS1 transgenic mouse is a model for amyloid deposition and as 
17306794PS1PS10.9and the Alzheimer's disease double transgenic mouse model APP/PS1 APP PS1 
17306794PS1PS10.9mutation (K670M/N671L) K670M N671L and the human presenilin 1 (PS1) PS1 carrying the mutation (M146L) M146L under the control of the 
17306794PS1PS10.9were crossed to generate mice carrying both transgenes (APP/PS1) APP PS1 
17306794PS1PS10.9The presence of amyloid plaques in APP/PS1 APP PS1 transgenic mice and AD tissues was confirmed using thioflavine S 
17306794PS1PS10.9APP/PS1 APP PS1 and human AD tissue 
17306794PS1PS10.9overexpressing both mutant APP and mutant presenilin 1 (APP/PS1) APP PS1 showed numerous thioflavine S-positive plaques in the cerebral cortex and 
17306794PS1PS10.9In coincidence with the brain of APP/PS1 APP PS1 mice thioflavine S(+) S plaques were surrounded by CATX-loaded cells 
17306794PS1PS10.9and (v) v associated with plaques in the APP/PS1 APP PS1 transgenic mouse and human AD cerebral cortex 
17306794PS1PS10.9mouse model SOD1-G93A and around senile plaques of APP/PS1 APP PS1 transgenics and AD patients 
17306794PS1PS10.9Fig 8._amp_#xa0 CATX expression in APP/PS1 APP PS1 bigenic mice and Alzheimer patients 
17306794PS1PS10.9(A_amp_#x2013;D) A_amp_#x2013 D APP/PS1 APP PS1 bigenic animals 
17306794PS1PS10.9plaque in the cerebral cortex of a 9-month-old APP/PS1 APP PS1 bigenic animal 
11173059presenilin 1presenilin 11.0about half of the autosomal dominant inherited forms of alzheimer disease feature an early onset of disease and are accounted for by mutations of the amyloid precursor protein presenilin 1 ps 1 or presenilin 2 gene ps 2 rosenberg 2000 .  
14739060presenilin 1presenilin 11.0in familial forms missense mutation have been identified for gene encoding _amp_#x3b2; amyloid precursor protein as well as presenilin 1 psen1 and presenilin 2 psen2 .  
15210305presenilin 1presenilin 11.0the amyloid precursor protein/presenilin 1 app+ps1 transgenic mouse is a model for amyloid deposition and as in ad the mice develop memory deficits and amyloid deposits accumulate.  
17306794presenilin 1presenilin 11.0transgenic mice expressing the human amyloid precursor protein app with the swedish mutation k670m/n671l and the human presenilin 1 ps1 carrying the mutation m146l under the control of the murine thy1 promoter were generated on the b6d2f1 genetic background in our department.  
17306794presenilin 1presenilin 11.0at the age of 9_amp_#xa0;months mice overexpressing both mutant app and mutant presenilin 1 app/ps1 showed numerous thioflavine s positive plaques in the cerebral cortex and the hippocampus and this plaque load increased substantially with age data not shown .  
17555556presenilin 1presenilin 11.0they reported that microglia derived from mutant presenilin 1 mice were more sensitive to lps treatment than wild type microglia; microglia expressing mutant presenilin 1 exhibited a heightened sensitivity to lps as demonstrated by superinduction of inos and activation of mitogen activated protein kinase.