Evidence map›Paper›PMID 41912785›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2026

Disrupted lipid homeostasis as a pathogenic mechanism in ABCA7-associated Alzheimer's disease risk.

Younji Nam, Brooke A DeRosa, Aura M Ramirez, Biniyam A Ayele, Patrice Whitehead-Gay, Larry D Adams, Charles G Golightly, Takiyah D Starks, Mayra Juliana Laverde-Paz, Holly N Cukier and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors.

Younji NamJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Brooke A DeRosaJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Aura M RamirezJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Biniyam A AyeleJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Patrice Whitehead-GayJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Larry D AdamsJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Charles G GolightlyJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Takiyah D StarksDepartment of Social Sciences and Health Policy, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Mayra Juliana Laverde-PazJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Holly N CukierJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Rufus AkinyemiNeuroscience and Ageing Research Unit, Institute for Advanced Medical Research & Training, University of Ibadan College of Medicine, Ibadan, Nigeria.
Fred SarfoDepartment of Medicine, Kwame Nkrumah University of Science & Technology, Kumasi, Ghana.
Albert AkpaluDepartment of Medicine, University of Ghana Medical School/Korle Bu Teaching Hospital, Accra, Ghana.
Michael L CuccaroJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Scott M WilliamsDepartment of Population & Quantitative Health Sciences School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.
Allison Caban-HoltDepartment of Social Sciences and Health Policy, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Christiane ReitzGertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, Departments of Neurology, and Epidemiology, Columbia University, New York, New York, USA.
Jonathan L HainesDepartment of Population & Quantitative Health Sciences School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.
Goldie S ByrdDepartment of Social Sciences and Health Policy, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Farid RajabliJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Derek M DykxhoornJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Juan I YoungJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Jeffery M VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.ORCID 0000-0001-7283-8804

Funding

Recruitment and Retention for Alzheimer's Disease Diversity Genetic Cohorts in the ADSP (READD-ADSP)U19AG074865 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI ANTHONY JOHN GRISWOLD · 2022 to 2026
$55.3M
The Origins of Alzheimer Disease in African AmericansR01AG072547 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Rufus Olusola Akinyemi, GOLDIE S. BYRD · 2022 to 2026
$26.1M
Alzheimer's Association AARFD-24-1308800NIA NIH HHS R01 AG072547NIA NIH HHS U19 AG074865NIA NIH HHS U19AG074865
6 · The paper itself

Abstract

introductionABCA7 (ATP binding cassette subfamily A member 7) encodes a lipid transporter associated with increasing risk for Alzheimer's disease (AD). A 44-base pair deletion in ABCA7 (rs142076058; p.Arg578Alafs) is a strong risk factor in individuals of African ancestry (AA). However, the biological consequences of this deletion are poorly understood.

methodsWe expressed the truncated ABCA7 protein in HEK and HepG2 cells to assess cellular localization and impact on lipid metabolism, respectively. Additionally, induced pluripotent stem cell (iPSC)-derived neurons carrying the deletion were functionally assessed compared to isogenic controls.

resultsTruncated ABCA7 localized to endoplasmic reticulum and plasma membranes similarly to the wild type in HEK cells but induced significant lipid droplet accumulation in HepG2 cells and iPSC-derived neurons while reducing mitochondrial membrane potential in iPSC-derived neurons. DISCUSSION: These findings show that the AA-specific ABCA7 deletion disrupts lipid and mitochondrial homeostasis, supporting a mechanistic link between the ABCA7 deletion and increased AD risk.

Indexed as

Alzheimer DiseaseATP-Binding Cassette TransportersHomeostasisLipid MetabolismCell MembraneHEK293 CellsHep G2 CellsHumansInduced Pluripotent Stem CellsMembrane Potential, MitochondrialNeuronsABCA7 protein, humanATP-Binding Cassette TransportersAfrican ancestryAlzheimer's diseaseATP binding cassette subfamily A member 7frameshift deletionlipid droplet

Identifiers

PMID41912785
PMCPMC13140508

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.