|
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.
|
15663477 |
2005 |
|
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Atypical dementia associated with a novel presenilin-2 mutation.
|
14681895 |
2003 |
|
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
|
10631141 |
2000 |
|
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.
|
10732806 |
1998 |
|
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
|
9384602 |
1998 |
|
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
|
9050898 |
1997 |
|
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.
|
8986743 |
1997 |
|
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
|
7638622 |
1995 |
|
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
|
7651536 |
1995 |
|
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
|
7651536 |
1995 |
|
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
|
7638622 |
1995 |
|
ALZHEIMER DISEASE 4
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) genes account for the majority of autosomal dominant Alzheimer's disease (AD), with PSEN1 being the most common.
|
31235344 |
2020 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The gene mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the frequent causes of AD.
|
30549411 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation.
|
31165862 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Many mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PSEN1 and PSEN2) have been reported as the pathogenic causes of early-onset AD (EOAD), which accounts for up to 5% of all AD cases.
|
31182772 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.
|
31020001 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes PSEN1, PSEN2 or APP are known to cause familial forms of AD with an early age of onset.
|
30634129 |
2019 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Differentially acetylated peaks were enriched in disease-related biological pathways and included regions annotated to genes involved in the progression of amyloid-β and tau pathology (for example, APP, PSEN1, PSEN2, and MAPT), as well as regions containing variants associated with sporadic late-onset AD.
|
30349106 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Zebrafish possess an orthologous gene, psen2, and present opportunities for investigation of PRESENILIN function related to Alzheimer's disease.
|
30359395 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Future functional studies are needed to evaluate the role of PSEN2 p.His169Asn mutation in AD disease progression.
|
30104866 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our studies indicate that the familial AD mutation PSEN2 <sup>N141I</sup> does not induce neuronal insulin resistance in a cell autonomous fashion.
|
29945658 |
2018 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Brain carriers of pathogenic mutations in APP, PSEN1, or PSEN2 presented lower neuron and higher astrocyte relative proportions compared to sporadic AD.
|
29880032 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Besides familial mutations on the AβPP gene, or upon its overexpression, familial forms of AD are often caused by mutations or deletions in presenilin 1 (PSEN1) and 2 (PSEN2) genes: the catalytic components of the proteolytic enzyme γ-secretase (GS).
|
29103038 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
<b>Conclusions:</b> Pathogenic mutations in the Alzheimer disease-causing genes (<i>PSEN1</i> and <i>PSEN2)</i> are found in sporadic PD patients.
|
29692703 |
2018 |