Publication
Title
The ABC's of Alzheimer risk gene ABCA7
Author
Abstract
Alzheimer's disease (AD) is a growing problem worldwide. Since ABCA7's identification as a risk gene, it has been extensively researched for its role in the disease. We review its recently characterized structure and what the mechanistic insights teach us about its function. We furthermore provide an overview of identified ABCA7 mutations, their presence in different ancestries and protein domains and how they might cause AD. For ABCA7 PTC variants and a VNTR expansion, haploinsufficiency is proposed as the most likely mode-of-action, although splice events could further influence disease risk. Overall, the need to better understand expression of canonical ABCA7 and its isoforms in disease is indicated. Finally, ABCA7's potential functions in lipid metabolism, phagocytosis, amyloid deposition, and the interplay between these three, is described. To conclude, in this review, we provide a comprehensive overview and discussion about the current knowledge on ABCA7 in AD, and what research questions remain. Highlights Alzheimer's risk-increasing variants in ABCA7 can be found in up to 7% of AD patients. We review the recently characterized protein structure of ABCA7. We present latest insights in genetics, expression patterns, and functions of ABCA7.
Language
English
Source (journal)
Alzheimer's & dementia / Alzheimer’s Association [Chicago, Ill.] - Orlando, Fla, 2005, currens
Publication
Hoboken : Wiley , 2024
ISSN
1552-5260 [print]
1552-5279 [online]
DOI
10.1002/ALZ.13805
Volume/pages
(2024) , p. 1-20
ISI
001194150500001
Pubmed ID
38556850
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Project info
Understanding reduced penetrance of ABCA7 premature termination codon mutations in Alzheimer's disease.
Uncovering the role(s) of ABCA7 transporter in Alzheimer's disease.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 02.05.2024
Last edited 08.05.2024
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