Evidence map›Paper›PMID 40591711›Full record

ArticleScience signaling2025

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease.

Maria Celeste Gauron, Dmitry Prokopenko, Sanghun Lee, Sarah A Wolfe, Julian Hecker, Julian Willett, Mohammad Waqas, Gema Lordén, Yimin Yang, Joshua E Mayfield and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Science signaling, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

20 authors.

Maria Celeste GauronDepartment of Pharmacology, University of California, San Diego, La Jolla, CA 92093-0721, USA.ORCID 0000-0002-4717-277X
Dmitry ProkopenkoGenetics and Aging Research Unit and the McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA.ORCID 0000-0002-1844-5652
Sanghun LeeDepartment of Medical Consilience, Graduate School, Dankook University, Yongin-si, 16890, South Korea.ORCID 0000-0002-0573-9555
Sarah A WolfeDepartment of Pharmacology, University of California, San Diego, La Jolla, CA 92093-0721, USA.
Julian HeckerHarvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-7918-089X
Julian WillettGenetics and Aging Research Unit and the McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Mohammad WaqasGenetics and Aging Research Unit and the McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA.ORCID 0000-0002-4633-4167
Gema LordénDepartment of Pharmacology, University of California, San Diego, La Jolla, CA 92093-0721, USA.
Yimin YangDepartment of Pharmacology, University of California, San Diego, La Jolla, CA 92093-0721, USA.ORCID 0009-0002-6711-6123
Joshua E MayfieldDepartment of Pharmacology, University of California, San Diego, La Jolla, CA 92093-0721, USA.
Isabel CastanhoHarvard Medical School, Boston, MA 02115, USA.ORCID 0000-0003-1413-626X
Kristina MullinGenetics and Aging Research Unit and the McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Sarah MorganDepartment of Pathology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.
Georg HahnDepartment of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, MA 02115, USA.ORCID 0000-0001-6008-2720
Dawn L DemeoHarvard Medical School, Boston, MA 02115, USA.
Winston HideHarvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-8621-3271
Lars BertramLübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Cardiogenetics, University of Lübeck, 23562 Lübeck, Germany.
Christoph LangeHarvard Medical School, Boston, MA 02115, USA.ORCID 0000-0003-2620-1030
Alexandra C NewtonDepartment of Pharmacology, University of California, San Diego, La Jolla, CA 92093-0721, USA.ORCID 0000-0002-2906-3705
Rudolph E TanziGenetics and Aging Research Unit and the McCance Center for Brain Health, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA.ORCID 0000-0002-7032-1454

Funding

TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Molecular Mechanisms of Cell SignalingR35GM122523 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ALEXANDRA C. NEWTON · 2017 to 2026
$6.7M
NIGMS NIH HHS R35 GM122523NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

The identification of Alzheimer's disease (AD)-associated genomic variants has provided powerful insight into disease etiology. Genome-wide association studies (GWASs) of AD have successfully identified previously unidentified targets but have almost exclusively used additive genetic models. Here, we performed a family-based GWAS of a recessive inheritance model using whole-genome sequencing from families affected by AD. We found an association between AD risk and the variant rs7161410, which is located in an intron of the

Indexed as

Alzheimer DiseaseGenes, RecessiveGolgi ApparatusMutation, MissenseProtein Kinase CSignal TransductionAgedFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPedigreeProtein Kinase Cprotein kinase C eta

Identifiers

PMID40591711
PMCPMC12303577

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.