Publications (221)

2021

  1. Small molecule-based enzyme inhibitors in the treatment of primary hyperoxalurias

    Journal of Personalized Medicine, Vol. 11, Núm. 2, pp. 1-31

  2. The Nucleocapsid protein triggers the main humoral immune response in COVID-19 patients

    Biochemical and Biophysical Research Communications, Vol. 543, pp. 45-49

  3. High Expression of FOXP2 Is Associated with Worse Prognosis in Glioblastoma

    World Neurosurgery, Vol. 150, pp. e253-e278

  4. Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria

    Cell Reports, Vol. 36, Núm. 8

  5. ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer

    Oncogene, Vol. 40, Núm. 16, pp. 2923-2935

2020

  1. The Value of Mouse Models of Rare Diseases: A Spanish Experience

    Frontiers in Genetics, Vol. 11

  2. Prevalence and genotype distribution of cervical human papilomavirus infection in the pre-vaccination era: A population-based study in the Canary Islands

    BMJ Open, Vol. 10, Núm. 9

  3. Oral Treatment With an Engineered Uricase, ALLN-346, Reduces Hyperuricemia, and Uricosuria in Urate Oxidase-Deficient Mice

    Frontiers in Medicine, Vol. 7

  4. Naturally-occurring rare mutations cause mild to catastrophic effects in the multifunctional and cancer-associated NQO1 protein

    Journal of Personalized Medicine, Vol. 10, Núm. 4, pp. 1-31

  5. Exploiting the passenger ACO1-deficiency arising from 9p21 deletions to kill T-cell lymphoblastic neoplasia cells

    Carcinogenesis, Vol. 41, Núm. 8, pp. 1113-1122

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. CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

    Nature Communications, Vol. 9, Núm. 1

  2. Bladder Fetal Rhabdomyoma Intermediate Type

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