×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
25471389 2015
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.
26143746 2015
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Disease-related mutations among Caribbean Hispanics with familial dementia.
25333068 2014
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
24773620 2014
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.
24418614 2014
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
24880964 2014
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.
24217025 2014
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
24011544 2014
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
23843529 2013
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.
23114514 2013
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Neurodegenerative disorder FTDP-17-related tau intron 10 +16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice.
23680655 2013
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
22461631 2012
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.
22766738 2012
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau.
22723997 2012
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.
22115042 2012
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
22312439 2012
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Presenilin/γ-secretase regulates neurexin processing at synapses.
21559374 2011
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
21373759 2011
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders.
22022446 2011
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
20145736 2010
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.
20484632 2010
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
20634584 2010
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations.
20045477 2010
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.
19498037 2009
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations.
19786698 2009