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An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice.

Overview

Authors: Claudio Peter D'Incal1, Elisa Cappuyns1, Flora Paldi2, Mathijs B van der Lei1, Dale John Annear1, Clara Milián Alastruey3,4, Dimitra Sokolova3,4, Ellen Elinck1, Kevin De Man1, Anthony Konings1, Jolien Huyghebaert1, Sofie Thys5,6, Isabel Pintelon5,6, Marlies Verschuuren5,6, Elke Calus7,8, Debby Van Dam7,8, Peter P De Deyn7,8,9,10, Sylvie Nguyen11, Binnaz Yalcin11,12, Takuro Horii13
and 6 other authorsIzuho Hatada13, Ligia Mateiu1, Giacomo Cavalli2, Emanuela Pasciuto3,4, Wim Vanden Berghe14, R Frank Kooy1
ORCID iDs: Claudio Peter D'Incal, Flora Paldi, Clara Milián Alastruey, Dimitra Sokolova, Sofie Thys, Isabel Pintelon, Debby Van Dam, Ligia Mateiu, Emanuela Pasciuto, R Frank Kooy
14 affiliations
  1. Cognitive Genetics (CONGET), Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
  2. Institute of Human Genetics, CNRS, University of Montpellier, Montpellier, France
  3. VIB Center for Molecular Neurology, VIB, Antwerp, Belgium
  4. Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
  5. Laboratory of Cell Biology and Histology, Department of Veterinary Sciences, University of Antwerp, Antwerp, Belgium
  6. Antwerp Centre for Advanced Microscopy (ACAM), University of Antwerp, Antwerp, Belgium
  7. Laboratory of Neurochemistry and Behavior, Experimental Neurobiology Unit, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
  8. Department of Neurology and Alzheimer Research Center, University of Groningen, and University Medical Centre Groningen (UMCG), Groningen, the Netherlands
  9. Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and HogeBeuken, Antwerp, Belgium
  10. Institute Born-Bunge (IBB) Neurobiobank, University of Antwerp, Antwerp, Belgium
  11. Université Bourgogne Europe, INSERM Research Center U1231, 21070, Dijon, France
  12. Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, Inserm U1315, Université Claude Bernard Lyon 1, 69008, Lyon, France
  13. Laboratory of Genome Science, Biosignal Genome Resource Center, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, Japan
  14. Cell Death Signalling - Epigenetics lab, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
Institutions: University of Antwerp (Belgium); Centre National de la Recherche Scientifique (France); Université de Montpellier (France); Institut de Génétique Humaine (France); VIB-UAntwerp Center for Molecular Neurology (Belgium); University Medical Center Groningen (Netherlands); University of Groningen (Netherlands); ZNA Middelheim Hospital (Belgium); Institute Born-Bunge (Belgium); Inserm (France); Université de Bourgogne (France); Lyon 1 Université (France); Institut NeuroMyoGène (France); Laboratoire Physiopathologie et Génétique du Neurone et du Muscle (France); Université Bourgogne Europe (France); Gunma University (Japan)
Journal: EBioMedicine, volume 128, article 106309
Dates: received 15 July 2025; accepted 8 May 2026; published online 28 May 2026; in print June 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1016/j.ebiom.2026.106309 · PMID 42208149 · PMCID PMC13235381 · OpenAlex W7162632601
Open access: gold, a free copy (OpenAlex)
Status: data only
Categories: genetics / omics (modality), human (organism), mouse (organism), autism (population), cellular / molecular (subfield)
Methods: Statistics, Machine learning, Graphs, fMRI & imaging
Keywords: Helsmoortel-Van der Aa syndrome (HVDAS), Activity-Dependent Neuroprotective Protein (Adnp), Autism, Epigenetics, Chromatin architecture
MeSH: Autistic Disorder*, Nerve Tissue Proteins*, Wnt Signaling Pathway*, Animals, Behavior, Animal, Disease Models, Animal, Homeodomain Proteins, Male, Mice, Phenotype, Proteomics (* major topic)
Topic: Wnt/β-catenin signaling in development and cancer (Molecular Biology, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: Simons Foundation Autism Research Initiative; Marguerite-Marie Delacroix Foundation; University of Antwerp; FWO; University of Montpellier
Citations: cited by 2 papers (Europe PMC); 125 references in the paper
Research resources: anti-Camk2a RRID:AB_2070308, RRID:AB_2340606, NeuN RRID:AB_2341095, RRID:AB_2534117, RRID:AB_2536183, RRID:AB_2617138, RRID:AB_2636929, phospho-Thr286 Camk2a RRID:AB_2713889, RRID:AB_2921070, GFAP RRID:AB_304558, anti-Dbn1 RRID:AB_3069439, RRID:AB_3097704, E-cadherin RRID:AB_397580, PPARα RRID:AB_448110, histone H3 RRID:AB_470239, β-actin RRID:AB_476744, Gapdh RRID:AB_561053, Iba1 RRID:AB_839504, RRID:IMSR_JAX:033128

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

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Data

Datasets cited

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Read it in the paper: doi.org/10.1016/j.ebiom.2026.106309.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 2, 28 September 2026

  • Authors: added Clara Milián Alastruey (0000-0002-9772-7462); Sofie Thys (0000-0002-7080-3592); Isabel Pintelon (0000-0003-2901-4679); Debby Van Dam (0000-0003-4739-6076); Ligia Mateiu (0000-0002-2655-3581); removed Clara Milián Alastruey; Sofie Thys; Isabel Pintelon; Debby Van Dam; Ligia Mateiu

Version 1, 28 September 2026: the first record

Recorded: type, language, journal, volume, pages, dates, 26 authors, 5 keywords, 11 MeSH terms, 5 funders, 125 references, 19 RRIDs.

Cite

This paper

D'Incal, C. P., Cappuyns, E., Paldi, F., van der Lei, M. B., Annear, D. J., Alastruey, C. M., Sokolova, D., Elinck, E., De Man, K., Konings, A., Huyghebaert, J., Thys, S., Pintelon, I., Verschuuren, M., Calus, E., Van Dam, D., De Deyn, P. P., Nguyen, S., Yalcin, B., . . . Kooy, R. F. (2026). An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice. EBioMedicine, 128, 106309. https://doi.org/10.1016/j.ebiom.2026.106309

BibTeX

@article{dincal2026adnp,
author = {D'Incal, Claudio Peter and Cappuyns, Elisa and Paldi, Flora and van der Lei, Mathijs B and Annear, Dale John and Alastruey, Clara Milián and Sokolova, Dimitra and Elinck, Ellen and De Man, Kevin and Konings, Anthony and Huyghebaert, Jolien and Thys, Sofie and Pintelon, Isabel and Verschuuren, Marlies and Calus, Elke and Van Dam, Debby and De Deyn, Peter P and Nguyen, Sylvie and Yalcin, Binnaz and Horii, Takuro and Hatada, Izuho and Mateiu, Ligia and Cavalli, Giacomo and Pasciuto, Emanuela and Berghe, Wim Vanden and Kooy, R Frank},
title = {{An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice}},
journal = {EBioMedicine},
year = {2026},
month = may,
volume = {128},
pages = {106309},
publisher = {Elsevier},
issn = {2352-3964},
doi = {10.1016/j.ebiom.2026.106309},
url = {https://doi.org/10.1016/j.ebiom.2026.106309},
pmid = {42208149},
pmcid = {PMC13235381}
}

RIS

TY - JOUR
AU - D'Incal, Claudio Peter
AU - Cappuyns, Elisa
AU - Paldi, Flora
AU - van der Lei, Mathijs B
AU - Annear, Dale John
AU - Alastruey, Clara Milián
AU - Sokolova, Dimitra
AU - Elinck, Ellen
AU - De Man, Kevin
AU - Konings, Anthony
AU - Huyghebaert, Jolien
AU - Thys, Sofie
AU - Pintelon, Isabel
AU - Verschuuren, Marlies
AU - Calus, Elke
AU - Van Dam, Debby
AU - De Deyn, Peter P
AU - Nguyen, Sylvie
AU - Yalcin, Binnaz
AU - Horii, Takuro
AU - Hatada, Izuho
AU - Mateiu, Ligia
AU - Cavalli, Giacomo
AU - Pasciuto, Emanuela
AU - Berghe, Wim Vanden
AU - Kooy, R Frank
TI - An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice
T2 - EBioMedicine
J2 - eBioMedicine
PY - 2026
DA - 2026/05/28
VL - 128
SP - 106309
SN - 2352-3964
PB - Elsevier
DO - 10.1016/j.ebiom.2026.106309
UR - https://doi.org/10.1016/j.ebiom.2026.106309
LA - en
ER -

CSL-JSON

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