Publicaciones en colaboración con investigadores/as de Instituto de Biología y Genética Molecular (38)

2024

  1. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants

    Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409

  2. Itaconate drives mtRNA-mediated type I interferon production through inhibition of succinate dehydrogenase

    Nature Metabolism

  3. Splicing Dysregulation of Non-Canonical GC-5′ Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2

    Cancers, Vol. 16, Núm. 21

  4. Succinate Dehydrogenase and Human Disease: Novel Insights into a Well-Known Enzyme

    Biomedicines, Vol. 12, Núm. 9

  5. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

  6. The mitochondrial signature of cultured endothelial cells in sepsis: Identifying potential targets for treatment

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1870, Núm. 2

2023

  1. A Delphi study to identify and assess professional competencies in the education of optometrists: Education optometrists competencies assessment: A Delphi Study

    Journal of Optometry, Vol. 16, Núm. 2, pp. 151-166

  2. Characterization of endogenous Kv1.3 channel isoforms in T cells

    Journal of Cellular Physiology, Vol. 238, Núm. 5, pp. 976-991

  3. Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions

    PLoS ONE, Vol. 18, Núm. 9 September

  4. Effects of Gestational Intermittent Hypoxia on Placental Morphology and Fetal Development in a Murine Model of Sleep Apnea

    Advances in experimental medicine and biology, Vol. 1427, pp. 73-81

  5. In Vivo Confocal Microscopy in Limbal Stem Cell Deficiency After Mesenchymal Stem Cell Transplantation: A Sub-analysis from a Phase I–II Clinical Trial

    Ophthalmology and Therapy, Vol. 12, Núm. 6, pp. 3251-3262

  6. Pharmacological activation of insulin-degrading enzyme improves insulin secretion and glucose tolerance in diet-induced obese mice

    Diabetes, Obesity and Metabolism, Vol. 25, Núm. 11, pp. 3268-3278

  7. The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages

    iScience, Vol. 26, Núm. 8

  8. Transcriptional Basis of Ca2+ Remodeling Reversal Induced by Polyamine Synthesis Inhibition in Colorectal Cancer Cells

    Cancers, Vol. 15, Núm. 5

2022

  1. Crispr/casrx proof-of-concept for rna degradation: A future tool against rna viruses?

    Pharmaceuticals, Vol. 15, Núm. 1

  2. Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer

    Cancers, Vol. 14, Núm. 3

  3. Insulin-degrading enzyme ablation in mouse pancreatic alpha cells triggers cell proliferation, hyperplasia and glucagon secretion dysregulation

    Diabetologia, Vol. 65, Núm. 8, pp. 1375-1389

  4. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

    Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101

  5. Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

    Cancers, Vol. 14, Núm. 18

2021

  1. Novel fluorescent-based reporter cell line engineered for monitoring homologous recombination events

    PLoS ONE, Vol. 16, Núm. 4 April