|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
Biomarker |
BEFREE |
To understand the role of gangliosides in AD pathology in vivo, we crossed st3gal5-deficient (ST3<sup>-/-</sup>) mice that lack major brain gangliosides GM1, GD1a, GD3, GT1b, and GQ1b with 5XFAD transgenic mice that overexpress 3 mutant human amyloid proteins AP695 and 2 presenilin PS1 genes.
|
30797170 |
2019 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
Biomarker |
BEFREE |
In this study, AD cerebral organoids were generated by overexpressing familial AD mutations (APP and PS1 genes) in mouse induced pluripotent stem cells, so that the early pathogenesis of AD could be investigated well with protein and cellular phenotype analyses.
|
31421155 |
2019 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
To genetically reduce GAD67 in AD mouse brains, we crossed the Gad67 haploinsufficient mice (GAD67-GFP<sup>+/-</sup>) with 5xFAD mice (harboring 5 human familial AD mutations in APP and PS1 genes) to generate a new line of bigenic mice.
|
29017573 |
2017 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
We have previously used fluorodeoxyglucose (FDG) autoradiography to detect the pattern of metabolic declines in two different transgenic mouse models of fibrillar beta-amyloid pathology in Alzheimer's disease (AD), including the PDAPP mouse, which overexpresses a mutant form of human APP, and the PSAPP mouse, which overexpresses mutant forms of the human APP and PS1 genes.
|
20677372 |
2010 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that the cause of Alzheimer's disease in this patient is an authentic PS1 gene abnormality responsible for the patient's early onset Alzheimer's disease.
|
15196662 |
2004 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
The pattern of deposition of amyloid beta protein (Abeta) was investigated, using the monoclonal antibodies BA27 and BC05 detecting the C-terminal species Abeta40 and Abeta42(43), in six cases of Alzheimer's disease (AD) due to deletions in exon 9 of PS-1 gene.
|
11489138 |
2001 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
Biomarker |
BEFREE |
Since the neuropathology of AD is believed to begin many years before the onset of cognitive loss, we have also compared platelet APP ratios of four pre-symptomatic young adults carrying a presenilin-1 mutation to seven siblings homozygous for the normal PS-1 gene in an effort to determine whether reduced APP ratios are present before apparent cognitive loss in familial AD.
|
11166800 |
2001 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
A genetic association between a polymorphism in intron 8 of the PS-1 gene and AD has been described in some series, and an increased risk of AD has been reported in mothers of DS probands.
|
10951459 |
2000 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
An AD-associated mutation within the PS1 gene deletes exon 9 (PS1Deltaexon9) due to a splicing error and results in the accumulation of the uncleaved full-length protein.
|
10075646 |
1999 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T-->C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation.
|
9833068 |
1998 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
All mutations described in the PS-1 gene were found in early-onset Alzheimer's disease (AD) patients.
|
10732806 |
1998 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
Localization of PS1 immunoreactivity in familial and sporadic Alzheimer's disease suggests that genetically heterogeneous forms of the disease share a common pathophysiology involving PS1 protein.
|
9189035 |
1997 |
|
TAS2R62P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
In all patients, Abeta42(43) was the predominant peptide species present, although the total amount of Abeta40 and Abeta42(43) deposited in plaques did not differ from that seen in sporadic AD and was significantly lower than that occurring in AD due to PS-1 gene mutations.
|
9005865 |
1997 |