Evidence map›Paper›PMID 42601455›Full record

ArticleNature genetics2026

PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures.

Audrey Coulon, Florian Rabiller, Mari Takalo, Avishek Roy, Alexandre Pelletier, Henna Martiskainen, Dolores Siedlecki-Wullich, Nina Lannette-Weimann, Naďa Majerníková, Arthur Grenon and 56 more

Abstract read
In one paragraph

Article in Nature genetics, 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

66 authors.

Audrey Coulon *Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Florian Rabiller *Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0009-0000-1977-2631
Mari Takalo *Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
Avishek Roy *Interdisciplinary Institute for Neuroscience, CNRS UMR 5297, University of Bordeaux, Bordeaux, France.ORCID http://orcid.org/0000-0003-2633-487X
Alexandre Pelletier *Department of Pharmacology, Physiology & Biophysics, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0003-2979-2470
Henna Martiskainen *Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland.ORCID http://orcid.org/0000-0003-2796-1859
Dolores Siedlecki-WullichUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0000-0002-9099-9406
Nina Lannette-WeimannUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0009-0008-3142-7900
Naďa MajerníkováUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Arthur GrenonUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, EGID-U1011, Lille, France.ORCID http://orcid.org/0009-0009-3717-1341
Vance GaoUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Anaël ErhardtInterdisciplinary Institute for Neuroscience, CNRS UMR 5297, University of Bordeaux, Bordeaux, France.ORCID http://orcid.org/0009-0003-7027-148X
Anne PernodetUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Morgane LemaireUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Floriane LimogeUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Pauline WalleUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Tiago MendesUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0000-0002-6194-7295
Karine GuyotUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Célia LemeuUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Lukas-Iohan CarvalhoUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Ana Raquel Melo de FariasUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Marc HulsmanGenomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-9889-3606
Chloé NajdekUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Alejandra Freire-RegatilloUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Orthis SahaUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Philippe AmouyelUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0000-0001-9088-234X
Camille CharbonnierUniv. Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Biostatistics and CNRMAJ, Rouen, France.ORCID http://orcid.org/0000-0003-1172-0196
Jean-François DeleuzeCommissariat à L'Énergie Atomique et Aux Énergies Alternatives, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, Gif-sur-Yvette, France.ORCID http://orcid.org/0000-0002-5358-4463
Orio Dols-IcardoDepartment of Neurology, II B Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0003-2656-8748
Heli JeskanenInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland.ORCID http://orcid.org/0009-0002-4783-7951
Roosa-Maria WillmanInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
Teemu KuulasmaaInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
Mitja KurkiInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
John HardyReta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London Institute of Neurology, London, UK.
Sami HeikkinenInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland.ORCID http://orcid.org/0000-0002-6083-2402
Henne HolstegeGenomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-7688-3087
Petra MäkinenInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
Gaël NicolasUniv. Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, Rouen, France.ORCID http://orcid.org/0000-0001-9391-7800
Simon MeadMedical Research Council Prion Unit, University College London Institute of Prion Diseases, London, UK.ORCID http://orcid.org/0000-0002-4326-1468
Michael WagnerDepartment of Cognitive Disorders and Old Age Psychiatry, Medical Faculty, University Hospital Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0003-2589-6440
Alfredo RamirezDepartment of Cognitive Disorders and Old Age Psychiatry, Medical Faculty, University Hospital Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0003-4991-763X
Tuomas RauramaaDepartment of Pathology, Kuopio University Hospital, Kuopio, Finland and Unit of Pathology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Aarno PalotieBiomedical Research Networking Center on Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.ORCID http://orcid.org/0000-0002-2527-5874
Rebecca SimsMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-3885-1199
Hilkka SoininenDepartment of Neurology, University of Eastern Finland, Kuopio, Finland.ORCID http://orcid.org/0000-0002-2785-9937
John van SwietenDepartment of Neurology, Erasmus Medical Centre, Rotterdam, the Netherlands.
Julie WilliamsUK Dementia Research Institute and Moondance Dementia Research Laboratory, Department of Psychological Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-4069-0259
Céline BellenguezUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0000-0002-1240-7874
Carla GelleUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Erwan LambertUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Marcos R CostaUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Julia TcwDepartment of Pharmacology, Physiology & Biophysics, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3054-9374
Enrico GlaabLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Anne-Marie AyralUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Florie DemiautteUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Benjamin Grenier-BoleyUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Manon MuntanerUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.
Delphine EberléUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, EGID-U1011, Lille, France.ORCID http://orcid.org/0000-0003-2211-6146
Séverine DeforgesInterdisciplinary Institute for Neuroscience, CNRS UMR 5297, University of Bordeaux, Bordeaux, France.ORCID http://orcid.org/0000-0001-7450-6897
Joel T HaasUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, EGID-U1011, Lille, France.
Devrim KilincUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0000-0003-3321-5203
Christophe MulleInterdisciplinary Institute for Neuroscience, CNRS UMR 5297, University of Bordeaux, Bordeaux, France.
Julien ChapuisUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France.ORCID http://orcid.org/0000-0002-5802-2857
Mikko HiltunenInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland.ORCID http://orcid.org/0000-0003-3566-4096
Julie DumontUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France. julie.dumont@univ-lille.fr.ORCID http://orcid.org/0000-0002-6009-0111
Jean-Charles LambertUniv. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE, Lille, France. jean-charles.lambert@pasteur-lille.fr.ORCID http://orcid.org/0000-0003-0829-7817

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We developed a high-content screening to investigate how Alzheimer's disease (AD) genetic risk factors may affect synaptic mechanisms in rat primary neuronal cultures. Of the target genes identified, we found that Plcg2 downregulation in mouse dentate gyrus neurons consistently disrupted dendritic morphology and synaptic function. In human neuronal cultures (hNCs), PLCG2 downregulation also impaired synaptic function and increased amyloid-β (Aβ) levels and Tau phosphorylation. Very rare PLCG2 loss-of-function (LoF) variants were associated with a tenfold increased AD risk. PLCG2 LoF carriers show low mRNA/protein PLCG2/PLCγ2 levels and the R953* LoF mutation compromised synaptic function and increased AD hallmarks in hNCs. Single-nucleus RNA sequencing analyses confirmed that the downregulation of PLCG2 impacted pathways related to synaptic and neuronal functions, potentially through neurexins in neurons. In conclusion, PLCγ2 downregulation could increase AD risk by impairing synaptic functions and by increasing Aβ levels and Tau phosphorylation in neurons.

Indexed as

Alzheimer DiseaseNeuronsPhospholipase C gammaSynapsesAmyloid beta-PeptidesAnimalsCells, CulturedDentate GyrusDown-RegulationHumansMicePhosphorylationRatstau ProteinsAmyloid beta-PeptidesPhospholipase C gammatau Proteins

Identifiers

PMID42601455
PMCPMC13553309

What Socratic holds

Textmetadata
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Registered trials

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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 Socratic graph.