Publicacións en colaboración con investigadores/as de 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