Evidence map›Paper›PMID 40832425›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Low-frequency genetic variants in GAK enhance Golgi function and protect against Parkinson's disease.

C Calatayud, I Fernandez-Carasa, N Spataro, C Mussolino, Y Richaud-Patin, A Faella, R Fernández-Santiago, M Ezquerra, T Courtin, S Bandres-Ciga and 12 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

22 authors.

C CalatayudRegenerative Medicine Program, Bellvitge Biomedical Research Institute (IDIBELL), and Program for Translation of Regenerative Medicine in Catalonia (P-[CMRC]), Hospital Duran i Reynals, Hospitalet de Llobregat, Barcelona, Spain.
I Fernandez-CarasaDepartment of Pathology and Experimental Therapeutics, Bellvitge University Hospital-IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
N SpataroGenetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.
C MussolinoInstitute for Transfusion Medicine and Gene Therapy, Medical Center - University of Freiburg, Germany.
Y Richaud-PatinRegenerative Medicine Program, Bellvitge Biomedical Research Institute (IDIBELL), and Program for Translation of Regenerative Medicine in Catalonia (P-[CMRC]), Hospital Duran i Reynals, Hospitalet de Llobregat, Barcelona, Spain.
A FaellaDepartment of Pathology and Experimental Therapeutics, Bellvitge University Hospital-IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.
R Fernández-SantiagoDepartment of Neurology, Hospital Clínic de Barcelona; Lab of Parkinson Disease and Other Neurodegenerative Movement Disorders, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Universitat de Barcelona (UB), 08036 Barcelona, Spain.ORCID 0000-0002-4582-0702
M EzquerraDepartment of Neurology, Hospital Clínic de Barcelona; Lab of Parkinson Disease and Other Neurodegenerative Movement Disorders, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Universitat de Barcelona (UB), 08036 Barcelona, Spain.
T CourtinSorbonne Université, INSERM, CNRS, Institut du Cerveau - Paris Brain Institute - ICM,7 5013, Paris, France.
S Bandres-CigaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
A MiguezCentre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), 28029 Madrid, Spain.
J M CanalsCentre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), 28029 Madrid, Spain.
M ChiritoiuCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain/Universitat Pompeu Fabra (UPF), Barcelona, Spain.
V MalhotraCentre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain/Universitat Pompeu Fabra (UPF), Barcelona, Spain.
A GarridoDepartment of Neurology, Hospital Clínic de Barcelona; Lab of Parkinson Disease and Other Neurodegenerative Movement Disorders, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Universitat de Barcelona (UB), 08036 Barcelona, Spain.
M J MartiDepartment of Neurology, Hospital Clínic de Barcelona; Lab of Parkinson Disease and Other Neurodegenerative Movement Disorders, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Universitat de Barcelona (UB), 08036 Barcelona, Spain.
E TolosaDepartment of Neurology, Hospital Clínic de Barcelona; Lab of Parkinson Disease and Other Neurodegenerative Movement Disorders, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Universitat de Barcelona (UB), 08036 Barcelona, Spain.
E BoschInstitute of Evolutionary Biology (CSIC-UPF), CEXS-UPF-PRBB, Universitat Pompeu Fabra, Barcelona, Spain.
T CathomenInstitute for Transfusion Medicine and Gene Therapy, Medical Center - University of Freiburg, Germany.ORCID 0000-0002-7757-4630
F H GageLaboratory of Genetics, Salk Institute for Biological Studies, La Jolla, California.ORCID 0000-0002-0938-4106
A RayaRegenerative Medicine Program, Bellvitge Biomedical Research Institute (IDIBELL), and Program for Translation of Regenerative Medicine in Catalonia (P-[CMRC]), Hospital Duran i Reynals, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0003-2189-9775
A ConsiglioDepartment of Pathology and Experimental Therapeutics, Bellvitge University Hospital-IDIBELL, Hospitalet de Llobregat, Barcelona, Spain.ORCID 0000-0002-3988-6254

Funding

Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Intramural NIH HHS ZIA AG000949Intramural NIH HHS ZIA NS003154
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have contributed significantly to unraveling the genetic bases of complex diseases such as Parkinson's disease (PD); yet experimental evidence for causation is often elusive. Here, we hypothesized that non-manifesting carriers of a PD-causing mutation in the

Identifiers

PMID40832425
PMCPMC12363757

What Socratic holds

Textmetadata
LicenceCC BY
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.