-
Loading metrics
Open Access
Peer-reviewed
Research Article
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients
-
Caroline E. Nunes-Xavier ,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing
* E-mail: rpulidomurillo@gmail.com, rafael.pulidomurillo@bio-bizkaia.eus (RP); carolinenunesxavier@gmail.com, carolineenlisabeth.nunes-xavier@bio-bizkaia.eus (CENX)
Affiliations Biobizkaia Health Research Institute, Barakaldo, Spain, CIBERER, ISCIII, Madrid, Spain
⨯ -
Mercè Pallarès-Sastre,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Supervision, Validation, Writing – review & editing
Affiliation Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain
⨯ -
Ana Rodríguez-Ramos,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Supervision, Validation, Writing – review & editing
Affiliations Biobizkaia Health Research Institute, Barakaldo, Spain, CIBERER, ISCIII, Madrid, Spain
⨯ -
Sonia Bañuelos,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Supervision, Validation, Writing – review & editing
Affiliations Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa, Spain, Biofisika Institute (UPV/EHU-CSIC), University of the Basque Country (UPV/EHU), Leioa, Spain
⨯ -
Irune Cortajarena,
Roles Investigation, Methodology, Writing – review & editing
Affiliations Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa, Spain, Biofisika Institute (UPV/EHU-CSIC), University of the Basque Country (UPV/EHU), Leioa, Spain
⨯ -
Fabio Cavaliere,
Roles Conceptualization, Validation, Writing – review & editing
Affiliations Achucarro Basque Center for Neuroscience, The Basque Biomodels Platform for Human Research (BBioH), Leioa, Spain, CIBERNED, ISCIII, Madrid, Spain
⨯ -
Cynthia Ruiz-Espinoza,
Roles Resources, Writing – review & editing
Affiliations Biobizkaia Health Research Institute, Barakaldo, Spain, Department of Pediatrics, Basurto University Hospital, Bilbao, Spain
⨯ -
Isabel Llano-Rivas,
Roles Resources, Writing – review & editing
Affiliations Biobizkaia Health Research Institute, Barakaldo, Spain, Department of Genetics, Cruces University Hospital, Barakaldo, Spain
⨯ -
Maitane García,
Roles Conceptualization, Supervision, Validation, Writing – review & editing
Affiliation Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain
⨯ -
Imanol Amayra,
Roles Conceptualization, Supervision, Writing – review & editing
Affiliation Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences. University of Deusto, Bilbao, Spain
⨯ -
Rafael Pulido
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Supervision, Validation, Writing – original draft, Writing – review & editing
* E-mail: rpulidomurillo@gmail.com, rafael.pulidomurillo@bio-bizkaia.eus (RP); carolinenunesxavier@gmail.com, carolineenlisabeth.nunes-xavier@bio-bizkaia.eus (CENX)
Affiliations Biobizkaia Health Research Institute, Barakaldo, Spain, CIBERER, ISCIII, Madrid, Spain, Ikerbasque, The Basque Foundation for Science, Bilbao, Spain
⨯
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients
- Caroline E. Nunes-Xavier,
- Mercè Pallarès-Sastre,
- Ana Rodríguez-Ramos,
- Sonia Bañuelos,
- Irune Cortajarena,
- Fabio Cavaliere,
- Cynthia Ruiz-Espinoza,
- Isabel Llano-Rivas,
- Maitane García,
- Imanol Amayra
-
- Published: October 13, 2025
- https://doi.org/10.1371/journal.pgen.1011907