Evidence map›Paper›PMID 40055364›Full record

ArticleScientific reports2025

Increased activation of the WNT pathway in brain tissue from patients with cortical dysplasia type IIb.

Fabio Jean Varella, Fernando Antônio Costa Xavier, Gabriele Zanirati, João Ismael Budelon Gonçalves, Thales Thor Ramos Previato, Douglas Bottega Pazzin, Normando G Pereira-Neto, Eliseu Paglioli, William Alves Martins, Andre Palmini and 6 more

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Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

16 authors.

Fabio Jean VarellaBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Fernando Antônio Costa XavierBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Gabriele ZaniratiBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
João Ismael Budelon GonçalvesBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Thales Thor Ramos PreviatoBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Douglas Bottega PazzinBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Normando G Pereira-NetoEpilepsy Surgery Program, São Lucas Hospital, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Eliseu PaglioliEpilepsy Surgery Program, São Lucas Hospital, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
William Alves MartinsEpilepsy Surgery Program, São Lucas Hospital, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Andre PalminiEpilepsy Surgery Program, São Lucas Hospital, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Adriana Souza Dos SantosFederal University of Rio Grande do Sul, Porto Alegre, Brazil.
José Garcia AbreuBiomedical Science Institute, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Kamila Souto LeichtweisBiomedical Science Institute, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Denise C MachadoBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Jaderson Costa Da CostaBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.
Daniel Rodrigo MarinowicBrain Institute of Rio Grande do Sul (BraIns), Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil. daniel.marinowic@pucrs.br.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Focal cortical dysplasia (FCD) is a malformation of cortical development characterized by a heterogeneous group of lesions with high epileptogenic activity. Somatic mutations in the mTOR pathway are the primary cause of cortical malformations (MCDs). Activation of the WNT pathway inhibits GSK3, which is a key inhibitor of mTOR; consequently, WNT activation is associated with increased activation of the mTOR pathway. Residual samples were obtained from the neocortex of five patients diagnosed with FCD type IIb who underwent surgery. For the control group, residual samples from the neocortex of 3 patients with temporal lobe epilepsy associated with hippocampal sclerosis (TLE-HS) were used. The samples were used to evaluate relative gene expression levels, immunohistochemical characteristics, and the quantification of proteins related to the WNT pathway by Western blot. Gene expression analysis showed increased fold-changes in the genes LRP5, LRP6, DKK1, and DVL1. Immunohistochemistry analysis revealed that the FCD brain samples exhibited more staining for LRP6 compared to control brain tissue. All patients with FCD showed stronger staining for β-catenin. The increased gene expression of WNT pathway genes, combined with the intensified anti-LRP6 antibody staining and increased β-catenin staining, along with the reduced rate of β-catenin phosphorylation observed in patients with FCD, suggests a more pronounced activation of the WNT pathway.

Indexed as

BrainMalformations of Cortical DevelopmentMalformations of Cortical Development, Group IWnt Signaling PathwayAdolescentAdultbeta CateninChildDishevelled ProteinsEpilepsyFemaleHumansIntercellular Signaling Peptides and ProteinsLow Density Lipoprotein Receptor-Related Protein-6MaleYoung Adultbeta CateninDishevelled ProteinsDKK1 protein, humanDVL1 protein, humanIntercellular Signaling Peptides and ProteinsLow Density Lipoprotein Receptor-Related Protein-6LRP6 protein, humanBeta-cateninEpilepsyFocal cortical dysplasiaLRP5LRP6WNT pathway

Identifiers

PMID40055364
PMCPMC11889187

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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 OpenQuestion graph.