Evidence map›Paper›PMID 41988936›Full record

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

Intracellular protein GBF1 displays significant associations with amyloid pathology in Alzheimer's disease.

Sean J Miller, Dmitry Prokopenko, Ping Bai, Prasenjit Mondal, Abigael Scott, Wei Zhang, Ashley Gomm, Siyi Zhang, Daniel D Child, Nolan Shen and 7 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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Sean J MillerGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Dmitry ProkopenkoGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Ping BaiAthinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Prasenjit MondalGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Abigael ScottGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Wei ZhangGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Ashley GommGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Siyi ZhangGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Daniel D ChildGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Nolan ShenGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Joseph WardGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Scott SchulteGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Dan LeiGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Brian P HaflerDepartment of Ophthalmology and Visual Science, Yale School of Medicine, New Haven, Connecticut, USA.
Changning WangAthinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Rudolph E TanziGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Can ZhangGenetics and Aging Research Unit, McCance Center for Brain Health, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.

Funding

Targeting the inflammatory response in age-related macular degenerationR01EY034234 · NEI · YALE UNIVERSITY · PI Brian P Hafler · 2022 to 2026
$2.0M
SCH: AI-Enhanced Multimodal Sensor-on-a-chip for Alzheimer's Disease DetectionR01AG077016 · NIA · PENNSYLVANIA STATE UNIVERSITY, THE · PI HU, JUEJUN, MA, FENGLONG · 2022 to 2025
$1.2M
C.J.L. charitable FoundationCure Alzheimer's FundH. Eric Cushing FoundationMADRC 1P30AG062421-01Nancy Lurie Marks Family FoundationNEI NIH HHS R01 EY034234NEI NIH HHS R01-EY034234NIH HHS R01AG077016
6 · The paper itself

Abstract

introductionDespite the identification of familial Alzheimer's disease (FAD) genes and neuropathological alterations, AD displays complex genetic heterogeneity and molecular pathogenesis that warrant further investigation. GBF1 (Golgi brefeldin A resistant guanine nucleotide exchange factor 1) regulates protein trafficking, and genetic variants of GBF1 are associated with axonal neuropathy, intelligence, and cognitive function.

methodsWe sought to identify GBF1 neuropathological and molecular alterations using human post mortem brains, 5XFAD mouse brains, and FAD cells, as well as two family-based datasets (total sample size of 2522) to explore candidate GBF1 variants associated with AD.

resultsGBF1 revealed neuropathological alterations in association with amyloid plaques. Genetic analysis identified GBF1 suggestive variants associated with AD. Downregulation of GBF1 retarded amyloid beta (Aβ) protein precursor maturation and reduced levels of Aβ proteins. DISCUSSION: Collectively, GBF1 reveals neuropathological alterations in AD, and may lead to AD by a pathogenic mechanism altering Aβ levels and amyloid deposition in the brain.

Indexed as

Alzheimer DiseaseBrainGuanine Nucleotide Exchange FactorsPlaque, AmyloidAmyloid beta-PeptidesAmyloid beta-Protein PrecursorAnimalsDisease Models, AnimalFemaleHumansMaleMiceMice, TransgenicAmyloid beta-PeptidesAmyloid beta-Protein PrecursorGBF1 protein, humanGuanine Nucleotide Exchange FactorsAlzheimer's diseaseamyloid betaamyloid precursor proteinGolgi brefeldin A‐resistant guanine nucleotide exchange factor‐1golgicide Aneuropathology

Identifiers

PMID41988936
PMCPMC13084705

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.