6 Result(s)
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Article
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case–control study using whole-exome sequencing data from 522 early-onset cases and 584 controls. The most recurren...
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Article
Open AccessFunctional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology
A recent genome-wide association meta-analysis for Alzheimer’s disease (AD) identified 19 risk loci (in addition to APOE) in which the functional genes are unknown. Using Drosophila, we screened 296 constructs ta...
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Article
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
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. We assessed the impact of SORL1 rare variants in early-onset Alzheime...
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Article
A novel Alzheimer disease locus located near the gene encoding tau protein
APOE ɛ4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer’...
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Article
Open AccessFollow-up of loci from the International Genomics of Alzheimer’s Disease Project identifies TRIP4 as a novel susceptibility gene
To follow-up loci discovered by the International Genomics of Alzheimer’s Disease Project, we attempted independent replication of 19 single nucleotide polymorphisms (SNPs) in a large Spanish sample (Fundació ...
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Article
Open AccessIncreased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology
Genome-wide association studies (GWAS) have identified a region upstream the BIN1 gene as the most important genetic susceptibility locus in Alzheimer’s disease (AD) after APOE. We report that BIN1 transcript lev...
