Late onset Alzheimer's disease genetics implicates microglial pathways in disease risk

AG Efthymiou, AM Goate - Molecular neurodegeneration, 2017 - Springer
Alzheimer's disease (AD) is a highly heritable complex disease with no current effective
prevention or treatment. The majority of drugs developed for AD focus on the amyloid …

[HTML][HTML] Genetics of Alzheimer's disease: where we are, and where we are going

C Bellenguez, B Grenier-Boley, JC Lambert - Current opinion in …, 2020 - Elsevier
Highlights•More than 40 loci of interest have been associated with the risk of developing
AD.•Recent genetic data clearly implicate microglia as involved in the pathophysiological …

RNA-based translation activators for targeted gene upregulation

Y Cao, H Liu, SS Lu, KA Jones, AP Govind… - Nature …, 2023 - nature.com
Technologies capable of programmable translation activation offer strategies to develop
therapeutics for diseases caused by insufficient gene expression. Here, we present …

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics

A De Roeck, C Van Broeckhoven, K Sleegers - Acta neuropathologica, 2019 - Springer
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 …

Role of ABCA7 in Human Health and in Alzheimer's Disease

S Dib, J Pahnke, F Gosselet - International Journal of Molecular Sciences, 2021 - mdpi.com
Several studies, including genome wide association studies (GWAS), have strongly
suggested a central role for the ATP-binding cassette transporter subfamily A member 7 …

Is Alzheimer's disease a liver disease of the brain?

MF Bassendine, SD Taylor-Robinson… - Journal of …, 2020 - content.iospress.com
Clinical specialization is not only a force for progress, but it has also led to the fragmentation
of medical knowledge. The focus of research in the field of Alzheimer's disease (AD) is …

ABCA7 and pathogenic pathways of Alzheimer's disease

T Aikawa, ML Holm, T Kanekiyo - Brain Sciences, 2018 - mdpi.com
The ATP-binding cassette (ABC) reporter family functions to regulate the homeostasis of
phospholipids and cholesterol in the central nervous system, as well as peripheral tissues …

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

A De Roeck, T Van den Bossche, J van der Zee… - Acta …, 2017 - Springer
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 …

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

L Bossaerts, E Hendrickx Van de Craen… - Acta neuropathologica …, 2022 - Springer
The adenosine triphosphate–binding cassette subfamily A member 7 gene (ABCA7) is
associated with Alzheimer's disease (AD) in large genome-wide association studies …

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease

A De Roeck, L Duchateau, J Van Dongen… - Acta …, 2018 - Springer
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 …