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Article
Open AccessCSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response
The Alzheimer’s disease (AD) risk gene ABCA7 has suggested functions in lipid metabolism and the immune system. Rare premature termination codon (PTC) mutations and an expansion of a variable number of tandem rep...
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Article
Open AccessAmyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
Alzheimer’s disease (AD) mutations in amyloid precursor protein (APP) and presenilins (PSENs) could potentially lead to the production of longer amyloidogenic Aβ peptides. Amongst these, Aβ1–43 is more prone to a...
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Article
Open AccessNanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION
Technological limitations have hindered the large-scale genetic investigation of tandem repeats in disease. We show that long-read sequencing with a single Oxford Nanopore Technologies PromethION flow cell per...
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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...
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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...
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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
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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 ...
