Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE We report a 35 year-old male with childhood learning disability and early onset dementia who is homozygous for the A431E variant in the PSEN1 gene. 30716424 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Alzheimer's disease patients with presenilin 1 (PSEN1) mutations commonly show parkinsonism in addition to dementia. 31322578 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Mutations of the presenilin-1 (PSEN1) gene are the most common causes of dementia in these patients. 29466804 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia. 28532645 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Participants from five families with early-onset autosomal-dominant mutations (Swedish and Arctic APP, PSEN1 M146V, H163Y, and I143T) included 35 carriers (28 without dementia and 7 with) and 44 non-carriers. 28079014 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 Biomarker disease CTD_human Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease. 28448946 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE We compared neurons derived from induced pluripotent stem cell (iPSC) lines of patients with early-onset familial Alzheimer's disease (fAD), all caused by mutations in the PSEN1 gene; patients with late-onset sporadic Alzheimer's disease (sAD); and three control individuals without dementia. 29191219 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 Biomarker disease CTD_human The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease. 27117003 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE This study aimed to determine Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Neuropsychological Assessment Battery total score diagnostic accuracy in the diagnosis of mild cognitive impairment (MCI) and dementia in familial Alzheimer's disease (FAD) with E280A mutation on presenilin-1 gene (PSEN1). 26478578 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Three of 12 noncarriers (25%) from the PSEN1 A79V family are potential phenocopies as they also developed AD dementia (median age at onset, 76.0 years). 27454811 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Given the absence of PSEN1, PSEN2 and APP causative variants, we investigated whether these 260 patients might be burdened with protein-modifying variants in 20 genes that were previously shown to cause other types of dementia when mutated. 26242991 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 Biomarker disease CTD_human Protective Effect of Notoginsenoside R1 on an APP/PS1 Mouse Model of Alzheimer's Disease by Up-Regulating Insulin Degrading Enzyme and Inhibiting Aβ Accumulation. 25714973 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 Biomarker disease CTD_human Identification of the key molecules involved in chronic copper exposure-aggravated memory impairment in transgenic mice of Alzheimer's disease using proteomic analysis. 25352456 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Here we report three novel PSEN1 mutations: Ile238_Lys239insIle, Ala246Pro and Ala164Val from patients who manifested in their twenties, forties and seventies, respectively, with variant clinical presentations of dementia. 26350633 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Our findings confirm the role of the PS1 Thr147Ile substitution in Alzheimer's disease and expand the clinical phenotype to include expressive aphasia and very early onset of dementia. 25812849 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Our data suggest that impaired calcium homeostasis and mitochondrial dysfunction in PS1-FAD PCs reduces their activity and contributes to motor coordination deficits prior to Aβ aggregation and dementia. 24569455 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE We report a novel PSEN1 mutation (p.Thr147Pro) responsible for a sporadic early-onset dementia with prominent cerebellar symptoms, resembling a spinocerebellar syndrome. 24718101 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R). 22882713 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia. 23114514 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE Involvement of cerebellar and brainstem structures leading to functional decortication in addition to rapid progressive presenile dementia in this PSEN1 family may therefore indicate an epistatic effect of the p.A58V Cathepsin D variant on the deleterious course of this disease. 23415546 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 GeneticVariation disease BEFREE This novel presenilin-1 sequence variant cosegregated with early onset dementia in the proband and at least one other affected family member, and likely represents a mutation causing familial, early-onset Alzheimer's disease. 23123781 2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 Biomarker disease BEFREE The PSEN1 gene and other dementia-related gene mutations were screened. 22572737 2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 Biomarker disease CTD_human APP/PS1 transgenic mice treated with aluminum: an update of Alzheimer's disease model. 22507317 2012