|
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 |
GeneticVariation
|
disease |
UNIPROT |
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
|
22472873 |
2012 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
|
23565137 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Association between genetic variants in SORL1 and autopsy-confirmed Alzheimer disease.
|
17978276 |
2008 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GeneticVariation
|
disease |
LHGDN |
These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease.
|
17220890 |
2007 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
|
30617256 |
2019 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
|
23565137 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The neuronal sortilin-related receptor (SORL1) has been reported to modulate the risk of Alzheimer's disease (AD) in a variety of populations, but replication studies have been inconsistent.
|
24083537 |
2014 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
|
24162737 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Derivation of induced pluripotent stem cells TUSMi006 from an 87-year old Chinese Han Alzheimer's disease patient carrying GRINB and SORL1 mutations.
|
30077089 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These findings indicate that in addition to SORL1 and SORCS1, variants in other members of the VPS10 domain receptor family (that is, SORCS1, SORCS2, SORCS3) are associated with AD risk and alter APP processing.
|
23673467 |
2013 |
|
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 |
In this study, we investigated the associations between single-nucleotide polymorphisms in GAB2 (rs2373115), GSK3B (rs6438552) and SORL1 (rs641120) and Alzheimer's disease (AD), both alone and in combination with the APOE*4 allele.
|
23525328 |
2013 |
|
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 |
LHGDN |
SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population.
|
18407551 |
2008 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Indeed, there have been reports of associations between variation in SORL1 and AD risk.
|
18562096 |
2008 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, variants in the sortilin-related receptor 1 gene, SORL1, were associated with Alzheimer disease.
|
18322368 |
2008 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
It has been reported that single nucleotide polymorphisms (SNPs) of the sortilin-related receptor with A-type repeats (SORL1, also called LR11 or sorLA) are associated with late-onset AD in Caucasian populations.
|
23948893 |
2013 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several single nucleotide polymorphisms of the gene SORL1, encoding sorLA, are genetically associated with Alzheimer's disease (AD).
|
30078640 |
2018 |
|
Alzheimer's Disease
|
0.500 |
GeneticVariation
|
disease |
GWASDB |
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
|
24162737 |
2013 |