FAC. BIOLÒGI.
Centre
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (40)
2024
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Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models
Biological Research, Vol. 57, Núm. 1
2023
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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
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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
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Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
Scientific Reports, Vol. 13, Núm. 1
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Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response
Cell Death Discovery, Vol. 9, Núm. 1
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Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Movement Disorders Clinical Practice, Vol. 10, Núm. 6, pp. 992-997
2022
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Characterization of Early Peripheral Immune Responses in Patients with Sepsis and Septic Shock
Biomedicines, Vol. 10, Núm. 3
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Gene co-expression architecture in peripheral blood in a cohort of remitted first-episode schizophrenia patients
Schizophrenia, Vol. 8, Núm. 1
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Lateral Flow Microimmunoassay (LFµIA) for the Reliable Quantification of Allergen Traces in Food Consumables
Biosensors, Vol. 12, Núm. 11
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Pathogenic strains of Shewanella putrefaciens contain plasmids that are absent in the probiotic strain Pdp11
PeerJ, Vol. 10
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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
2020
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Antioxidant therapies and oxidative stress in friedreich´s ataxia: The right path or just a diversion?
Antioxidants, Vol. 9, Núm. 8, pp. 1-23
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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
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Molecular architecture and activation of the insecticidal protein Vip3Aa from Bacillus thuringiensis
Nature Communications, Vol. 11, Núm. 1
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Revisiting the pH-gated conformational switch on the activities of HisKA-family histidine kinases
Nature Communications, Vol. 11, Núm. 1
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Structural and Functional Characterization of Autophosphorylation in Bacterial Histidine Kinases
Methods in Molecular Biology (Humana Press Inc.), pp. 121-140
2019
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Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich’s Ataxia Mouse Model
Neurotherapeutics, Vol. 16, Núm. 2, pp. 432-449
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The role of iron in Friedreich's ataxia: Insights from studies in human tissues and cellular and animal models
Frontiers in Neuroscience, Vol. 13, Núm. FEB
2017
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An Attachment-Independent Biochemical Timer of the Spindle Assembly Checkpoint
Molecular Cell, Vol. 68, Núm. 4, pp. 715-730.e5
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Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
Stem Cell Research, Vol. 18, pp. 1-4