4 Result(s)
within
Article
Arne De Roeck
Pathology
-
Article
Open AccessThe role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics
Genome-wide association studies (GWAS) originally identified ATP-binding cassette, sub-family A, member 7 (ABCA7), as a novel risk gene of Alzheimer’s disease (AD). Since then, accumulating evidence from in vitro...
-
Article
Open AccessLoss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability
Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of n...
-
Article
Open AccessAn intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease
Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer’s disease (AD). The influence of other genetic variants in ABCA7
-
Article
Open AccessDeleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer’s ...
