Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (36)

2024

  1. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

    Science advances, Vol. 10, Núm. 41, pp. eadn6525

  2. Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model

    Skeletal muscle, Vol. 14, Núm. 1, pp. 21

  3. Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model

    Biomedical Journal, Vol. 47, Núm. 4

  4. Structural and functional insights underlying recognition of histidine phosphotransfer protein in fungal phosphorelay systems

    Communications Biology, Vol. 7, Núm. 1

  5. Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models

    Biological Research, Vol. 57, Núm. 1

2023

  1. CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2

    Molecular Therapy - Nucleic Acids, Vol. 31, pp. 324-338

  2. Evolutionary analysis and structure modelling of the Rcs-repressor IgaA unveil a functional role of two cytoplasmic small β-barrel (SBB) domains

    Heliyon, Vol. 9, Núm. 6

  3. Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice

    Scientific Reports, Vol. 13, Núm. 1

2022

  1. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

    Annals of Neurology, Vol. 92, Núm. 5, pp. 793-806

  2. Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach

    Frontiers in Molecular Neuroscience, Vol. 15

  3. Gene co-expression architecture in peripheral blood in a cohort of remitted first-episode schizophrenia patients

    Schizophrenia, Vol. 8, Núm. 1

  4. Lateral Flow Microimmunoassay (LFµIA) for the Reliable Quantification of Allergen Traces in Food Consumables

    Biosensors, Vol. 12, Núm. 11

  5. Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model

    Molecular Neurobiology, Vol. 59, Núm. 10, pp. 6018-6032

  6. Structural and functional role of Domain I for the insecticidal activity of the Vip3Aa protein from Bacillus thuringiensis

    Microbial Biotechnology, Vol. 15, Núm. 10, pp. 2607-2618

2021

  1. A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

    European Journal of Neurology, Vol. 28, Núm. 4, pp. 1356-1365

  2. Modulators of Neuroinflammation Have a Beneficial Effect in a Lafora Disease Mouse Model

    Molecular Neurobiology, Vol. 58, Núm. 6, pp. 2508-2522

2020

  1. Author Correction: Revisiting the pH-gated conformational switch on the activities of HisKA-family histidine kinases (Nature Communications, (2020), 11, 1, (769), 10.1038/s41467-020-14540-5)

    Nature Communications

  2. Cofilin dysregulation alters actin turnover in frataxin-deficient neurons

    Scientific Reports, Vol. 10, Núm. 1

  3. Molecular architecture and activation of the insecticidal protein Vip3Aa from Bacillus thuringiensis

    Nature Communications, Vol. 11, Núm. 1

  4. Revisiting the pH-gated conformational switch on the activities of HisKA-family histidine kinases

    Nature Communications, Vol. 11, Núm. 1