|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we show that LR11 deficiency in this AD mouse model significantly increases Abeta levels and exacerbates early amyloid pathology in brain, causing a forward shift in disease onset that is LR11 gene dose-dependent.
|
19036982 |
2008 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hereby we review the evidence of the association of SORL1 common and rare variants with AD risk and conduct a meta-analysis of published data on SORL1 rare variants in five large sequencing studies.
|
30911827 |
2019 |
|
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
An intronic ncRNA-dependent regulation of SORL1 expression affecting Aβ formation is upregulated in post-mortem Alzheimer's disease brain samples.
|
22996644 |
2013 |
|
Alzheimer's Disease
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
Furthermore, we found that SORL1 promoter DNA methylation might act as one of the mechanisms responsible for the differences in expression observed between blood and brain for both healthy elderly and AD patients groups.
|
22836009 |
2012 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the SORL1 SNP rs985421 may alter the risk for sporadic AD and aMCI in the Han Chinese population.
|
24486888 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, our study suggests that certain SORL1 haplotypes at SNPs 19-24 modulated risk of AD in our Chinese population.
|
18063222 |
2009 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More common SORL1 variants (ExAC-MAF≥1 × 10<sup>-5</sup>) were not associated with increased AD risk, even when predicted strongly damaging.
|
28537274 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus our data suggest that SORL1 gene variants might influence AD pathology.
|
18541377 |
2008 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
SORL1 SNPs were not associated with LOAD in overall sample.
|
23463934 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conducted a study of 7 single nucleotide polymorphisms (SNPs), rs668387, rs689021, rs641120, rs1699102, rs3824968, rs2282649, and rs1010159, in the SORL1 gene that were associated to AD in previous studies.
|
19584446 |
2009 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Furthermore, peptides related to amyloid-β protein precursor (AβPP) processing [e.g., soluble AβPPα and β (sAβPPα and sAβPPβ, respectively); sortilin-related receptor with A-type repeats (SORL1, also called LR11 or SORLA)] are factors crucially implicated in the formation of pathological hallmarks of AD.
|
23609762 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, polymorphisms across the neuronal sortilin-related receptor (SORL1) gene were shown to be significantly associated with AD in several cohorts.
|
17975299 |
2008 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, these findings confirm that SORL1 is associated with AD and might be a potential tool for identifying MCI subjects at high risk of conversion to AD.
|
25881907 |
2015 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Finally, given the potential contributions of SORL1 to AD pathogenesis, targeting SORL1 might present novel opportunities for AD therapy.
|
24833601 |
2015 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
Thus, loss of SORLA's Aβ sorting function is a potential cause of AD in patients, and SORLA may be a new therapeutic target for AD drug development.
|
24523320 |
2014 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
LHGDN |
Further genetic studies are needed to clarify the relationship between the SORL1 gene and AD.
|
18685254 |
2008 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome.
|
17826910 |
2007 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data are consistent with either allelic heterogeneity or the existence of as yet untested functional variants and these will be important considerations in further attempts to evaluate the importance of sequence variation in SORL1 with AD risk.
|
19653016 |
2010 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This comprehensive meta-analysis provides confirmatory evidence that multiple SORL1 variants in distinct linkage disequilibrium blocks are associated with AD.
|
21220680 |
2011 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sex-specific characterization and evaluation of the Alzheimer's disease genetic risk factor sorl1 in zebrafish during aging and in the adult brain following a 100 ppb embryonic lead exposure.
|
27535807 |
2017 |
|
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Increased levels of soluble LR11 in cerebrospinal fluid of patients with Alzheimer disease.
|
20689279 |
2010 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1.
|
30636737 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
GWAS on family history of Alzheimer's disease.
|
29777097 |
2018 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
A key mediator of APP localization is SorL1-a membrane protein that has been genetically linked to AD.
|
22673115 |
2012 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The sorting-related receptor gene (SORL1) has been defined as an interesting candidate gene for Alzheimer's disease (AD).
|
26873856 |
2017 |