|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The SORL1- and APOE-dependent hippocampal connectivity changes may at least partly account for their association with AD.
|
28229235 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes.
|
28199971 |
2017 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
These findings may yield new insights into the complex interplay of SORL1 and AD pathology and point to NSCs as a valuable tool to address unsolved AD-related questions in vitro.
|
28634550 |
2017 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Upregulated transcripts included those related to axon guidance, glutamatergic synapses and kinase activity and included AD-risk genes Sorl1 and Ptk2b.
|
28628896 |
2017 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Premature stop codons due to frameshift and nonsense variants, have so far exclusively been found in patients, and their predicted mode of action corresponds with evidence from in vitro functional studies of SORL1 in AD.
|
27026413 |
2016 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer's disease.
|
26303663 |
2016 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Single nucleotide polymorphisms (SNPs) in and near ABCA7, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, complement receptor 1 (CR1), EPHA1, EXOC3L2, FERMT2, HLA cluster (DRB5-DQA), INPP5D, MEF2C, MS4A cluster (MS4A3-MS4A6E), NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1 have been associated with Alzheimer's disease (AD) in large meta-analyses.
|
27005436 |
2016 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
According to our findings, SORL1 variations influence the atrophy of specific AD-related brain structures, which suggested the potential role of SORL1 in the neurodegeneration of cognitive related regions.
|
27177090 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This review will provide a comprehensive overview of the evidence implicating SORLA-mediated protein sorting in neurodegenerative processes, and how receptor gene variants in the human population impair functional receptor expression in sporadic but possibly also in autosomal-dominant forms of AD.
|
27638701 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among the eight tested SNPs, SORL1 rs1784933 was most significantly associated with AD and MCI in our population.
|
28034305 |
2016 |
|
Alzheimer's Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that miR-1229-3p directly controls the expression of its top AD-associated target gene (SORL1) using luciferase reporter assays.
|
27328823 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We performed the meta-analysis to obtain a more precise estimation of whether growth factor receptor-bound protein-associated binding protein 2 (GAB2), phosphatidylinositol binding clathrin assembly protein (PICALM), and sortilin-related receptor (SORL1) variants are associated with AD.
|
26611835 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The major A allele in a SORL1 single nucleotide polymorphism (SNP), rs3824968, is associated with an increased AD risk.
|
26996954 |
2016 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
In humans, genetic variation of sortilin-related receptor, L(DLR class) A repeats containing (SORL1), which encodes the intracellular sorting receptor SORLA, is a major genetic risk factor for familial and sporadic forms of Alzheimer's disease.
|
27322061 |
2016 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SORL1 variants across Alzheimer's disease European American cohorts.
|
27650968 |
2016 |
|
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 |
BEFREE |
In conclusion, we found that SORL1 SNP rs2070045-G allele was related to CSF-tau and hippocampal atrophy, 2 endophenotype markers of AD, suggesting that SORL1 may be implicated in the downstream pathology in AD.
|
25659857 |
2015 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Similarly, the more prevalent late-onset forms of AD are associated with both coding and non-coding variants in genes such as SORL1, PICALM and ABCA7 that affect the production and clearance of Aβ.
|
25748120 |
2015 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Coding mutations in SORL1 and Alzheimer disease.
|
25382023 |
2015 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
(2015) dissect the function of common non-coding risk haplotypes in the SORL1 locus in the pathogenesis of sporadic Alzheimer's disease using patient-derived induced pluripotent stem cells.
|
25842969 |
2015 |
|
Alzheimer's Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells.
|
25772071 |
2015 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Significant associations of SORL1 variants with cross-sectional brain MRI measures and AD were observed only when the sample was stratified by sex.
|
24938503 |
2014 |