Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biocruces Bizkaia (8)

2023

  1. Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease

    European Journal of Human Genetics, Vol. 31, Núm. 5, pp. 568-577

2021

  1. A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons

    Human Mutation, Vol. 42, Núm. 5, pp. 551-566

  2. MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution

    Molecular Genetics and Metabolism Reports, Vol. 26

  3. Protein Tyrosine Phosphatases in Neuroblastoma: Emerging Roles as Biomarkers and Therapeutic Targets

    Frontiers in Cell and Developmental Biology, Vol. 9

2020

  1. Brain circuit alterations and cognitive disability in late-onset cobalamin d disorder

    Journal of Clinical Medicine, Vol. 9, Núm. 4

  2. Modeling human disease in yeast: recreating the PI3K-PTEN-Akt signaling pathway in Saccharomyces cerevisiae

    International microbiology: official journal of the Spanish Society for Microbiology, Vol. 23, Núm. 1, pp. 75-87

2019

  1. Precise definition of PTEN C-terminal epitopes and its implications in clinical oncology

    npj Precision Oncology, Vol. 3, Núm. 1

  2. Precise immunodetection of PTEN protein in human neoplasia

    Cold Spring Harbor Perspectives in Medicine, Vol. 9, Núm. 12