Publications (222)

2019

  1. Correction: DUB3 and USP7 de-ubiquitinating enzymes control replication inhibitor Geminin: molecular characterization and associations with breast cancer (Oncogene, (2017), 36, 33, (4802-4809), 10.1038/onc.2017.21)

    Oncogene

  2. Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I

    Advances in Protein Chemistry and Structural Biology (Academic Press Inc.), pp. 119-152

  3. Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1

    Nucleic Acid Therapeutics, Vol. 29, Núm. 2, pp. 104-113

  4. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

    Kidney International, Vol. 96, Núm. 6, pp. 1389-1399

  5. Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses

    Human Molecular Genetics, Vol. 28, Núm. 1, pp. 1-15

  6. Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.

    Stem Cell Research, Vol. 41

  7. Comprehensive clinical, molecular and histopathological analysis of bone marrow in chronic myeloproliferative neoplasia

    Revista Clinica Espanola, Vol. 219, Núm. 8, pp. 440-444

  8. A dynamic core in human NQO1 controls the functional and stability effects of ligand binding and their communication across the enzyme dimer

    Biomolecules, Vol. 9, Núm. 11

2018

  1. Bladder Fetal Rhabdomyoma Intermediate Type

    Urologia Internationalis, Vol. 101, Núm. 2, pp. 240-244