Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data reveal that CE independently regulate Tau and Aβ and identify a druggable CYP46A1-CE-Tau axis in AD.
|
30686764 |
2019 |
Alzheimer's Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These observations provide a platform for structural modifications of efavirenz to modulate CYP46A1 activity as a therapeutic target of brain disorders such as Alzheimer's disease, for which currently no treatment is available.
|
31845585 |
2019 |
Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Previously, we discovered that EFV activates CYP46A1 and improves behavioral performance in 5XFAD mice, an Alzheimer's disease model.
|
31063705 |
2019 |
Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
The modulation of CYP46A1 activity by genetic and pharmacologic means is also presented along with a brief synopsis of the two clinical trials that evaluate CYP46A1 as a therapeutic target for Alzheimer's disease as well as Dravet and Lennox-Gastaut syndromes.
|
31001737 |
2019 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, AD patients with the CYP46A1 TT, but not CC, genotype had higher 24-OHC levels, which indicated that there may be other mechanisms in the relationship between CYP46A1 polymorphisms and AD.
|
29516283 |
2018 |
Alzheimer's Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Genetically enhanced CYP46A1 expression in mouse models of Alzheimer's disease mitigates the manifestations of this disease.
|
28655608 |
2017 |
Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
The oxysterols potentially most closely involved in the pathogenesis of AD are 24-hydroxycholesterol and 27-hydroxycholesterol, respectively deriving from cholesterol oxidation by the enzymes CYP46A1 and CYP27A1.
|
27687218 |
2016 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results showed that no significant associations between CYP46A1 rs4900442 genetic polymorphism and risk of AD in allele model T vs. C (OR=0.947, 95%CI=0.853-1.051), dominant model CC+TC vs. TT (OR=0.878, 95%CI=0.734-1.049) and recessive model CC vs. TC+TT (OR=0.974, 95%CI=0.826-1.149).
|
27026489 |
2016 |
Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Therefore, CYP46A1 may be a relevant therapeutic target for Tauopathies and especially for AD.
|
26358780 |
2015 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Association of CYP46 gene polymorphism with sporadic Alzheimer's disease in Chinese Han populations: a meta-analysis.
|
23167762 |
2013 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our meta-analysis has successfully proved that CC genotype of the CYP46A1 T/C polymorphism could increase the risk of AD, and this effect would be weakened in APOE ε4 non-carriers and strengthened in APOE ε4 carriers.
|
23070465 |
2013 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CYP46A1 intron-2T/C polymorphism and Alzheimer's disease: an updated meta-analysis of 16 studies including 3,960 cases and 3,828 controls.
|
23792195 |
2013 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population.
|
22528464 |
2012 |
Alzheimer's Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our data demonstrate that neuronal overexpression of CYP46A1 before or after the onset of amyloid plaques significantly reduces Abeta pathology in mouse models of AD.
|
19654569 |
2010 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CYP46A1 functional promoter haplotypes decipher genetic susceptibility to Alzheimer's disease.
|
20693622 |
2010 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that CYP46A1 gene variations might act as risk factor for AD via an influence on brain cholesterol metabolism.
|
19286353 |
2009 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We previously found that the polymorphisms of cholesterol 24-hydroxylase (CYP46A1) gene were associated with the risk of Alzheimer's disease (AD) in Chinese.
|
19212968 |
2009 |
Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
CTD_human |
Our results suggest that CYP46A1 gene variations might act as risk factor for AD via an influence on brain cholesterol metabolism.
|
19286353 |
2009 |
Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aim of this review is to describe and summarize the findings of the researches about the relationship between CYP46 and AD that have been published in the past 9 years.
|
19705089 |
2009 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A single-nucleotide polymorphism (SNP) in the CYP46A1 gene, designated as rs754203 and associated with Alzheimer disease, was evaluated as a genetic risk factor for primary open-angle glaucoma (POAG), as well as plasma 24S-hydroxycholesterol levels.
|
19553612 |
2009 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Logistic regression analysis showed that the highest risk for AD was found for individuals who co-inherited APOE epsilon4 allele, PRNP codon 129 homozygosity, PRND codon 174 Thr allele, and CYP46 rs754203 g allele.
|
19363267 |
2009 |
Alzheimer's Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
One reason may be the previously demonstrated abnormal expression of cholesterol 24S-hydroxylase in astrocytes in AD, which may limit the usefulness of this plasma marker in this specific disease.
|
19560513 |
2009 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this case-control study was to determine whether single nucleotide polymorphisms (SNPs) A-->G in the intron 2 of CYP46 gene and G-->A (R219K) in the exon 7 of ABCA1 gene are associated with sporadic AD in the Chinese Han population.
|
17335784 |
2007 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H).
|
16157450 |
2006 |
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The results supported the involvement of the CYP46A1 gene and cholesterol metabolism in the pathogenesis of AD.
|
16734927 |
2006 |