Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (56)

2024

  1. A multiomic atlas of the aging hippocampus reveals molecular changes in response to environmental enrichment

    Nature Communications, Vol. 15, Núm. 1

  2. Design and Synthesis of Multi-Functional Ligands through Hantzsch Reaction: Targeting Ca2+ Channels, Activating Nrf2 and Possessing Cathepsin S Inhibitory, and Antioxidant Properties

    Pharmaceutics, Vol. 16, Núm. 1

  3. Effect of 5β-dihydrotestosterone on vasodilator function and on cell proliferation

    PLoS ONE, Vol. 19, Núm. 10 October

  4. Endothelial-to-Mesenchymal Transition in an Hereditary Hemorrhagic Telangiectasia-like Pediatric Case of Multiple Pulmonary Arteriovenous Malformations

    International Journal of Molecular Sciences, Vol. 25, Núm. 11

  5. Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice

    Medicine and Science in Sports and Exercise

  6. In Vitro Modulation of Autophagy by New Antioxidant Nitrones as a Potential Therapeutic Approach for the Treatment of Ischemic Stroke

    Antioxidants, Vol. 13, Núm. 8

  7. Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population

    Biomedicines, Vol. 12, Núm. 2

  8. Molecular and Cellular Characterization of Primary Endothelial Cells from a Familial Cavernomatosis Patient

    International Journal of Molecular Sciences, Vol. 25, Núm. 7

2023

  1. Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

    International Journal of Molecular Sciences, Vol. 24, Núm. 16

  2. CRISPR/dCAS9-mediated DNA demethylation screen identifies functional epigenetic determinants of colorectal cancer

    Clinical Epigenetics, Vol. 15, Núm. 1

  3. Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

    European Journal of Neurology, Vol. 30, Núm. 4, pp. 861-871

  4. Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

    Neurology: Genetics, Vol. 9, Núm. 4

  5. Maternal obesity and gestational diabetes reprogram the methylome of offspring beyond birth by inducing epigenetic signatures in metabolic and developmental pathways

    Cardiovascular Diabetology, Vol. 22, Núm. 1

  6. Mice inflammatory responses to inhaled aerosolized LPS: effects of various forms of human alpha1-antitrypsin

    Journal of leukocyte biology, Vol. 113, Núm. 1, pp. 58-70

  7. Multi-omic integration of DNA methylation and gene expression data reveals molecular vulnerabilities in glioblastoma

    Molecular Oncology, Vol. 17, Núm. 9, pp. 1726-1743

  8. Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth

    Acta Neurochirurgica, Vol. 165, Núm. 12, pp. 4241-4251

  9. NAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences

    Biomedicines, Vol. 11, Núm. 7

  10. Neuroprotective and Antioxidant Properties of CholesteroNitrone ChN2 and QuinolylNitrone QN23 in an Experimental Model of Cerebral Ischemia: Involvement of Necrotic and Apoptotic Cell Death

    Antioxidants, Vol. 12, Núm. 7

  11. Neuroprotective and antioxidant properties of new quinolylnitrones in in vitro and in vivo cerebral ischemia models

    Scientific Reports, Vol. 13, Núm. 1

  12. Nicotinamide N-methyltransferase (NNMT) regulates the glucocorticoid signaling pathway during the early phase of adipogenesis

    Scientific Reports, Vol. 13, Núm. 1