Bioquímica y Biología Molecular
Departamento
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 (46)
2024
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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
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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
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Exercise Intolerance in McArdle Disease: A Role for Cardiac Impairment? A Preliminary Study in Humans and Mice
Medicine and Science in Sports and Exercise
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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
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Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population
Biomedicines, Vol. 12, Núm. 2
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Molecular and Cellular Characterization of Primary Endothelial Cells from a Familial Cavernomatosis Patient
International Journal of Molecular Sciences, Vol. 25, Núm. 7
2023
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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
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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
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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
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Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth
Acta Neurochirurgica, Vol. 165, Núm. 12, pp. 4241-4251
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NAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences
Biomedicines, Vol. 11, Núm. 7
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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
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Neuroprotective and antioxidant properties of new quinolylnitrones in in vitro and in vivo cerebral ischemia models
Scientific Reports, Vol. 13, Núm. 1
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Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin
International Journal of Molecular Sciences, Vol. 24, Núm. 15
2022
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Clinical trials in pediatric ALS: a TRICALS feasibility study
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 7-8, pp. 481-488
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Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management
Journal of Clinical Medicine
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Lack of EGFR catalytic activity in hepatocytes improves liver regeneration following DDC-induced cholestatic injury by promoting a pro-restorative inflammatory response
Journal of Pathology, Vol. 258, Núm. 3, pp. 312-324
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Propranolol: A “Pick and Roll” Team Player in Benign Tumors and Cancer Therapies
Journal of Clinical Medicine, Vol. 11, Núm. 15
2021
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Molecular basis of ndt‐mediated activation of nucleoside‐ based prodrugs and application in suicide gene therapy
Biomolecules, Vol. 11, Núm. 1, pp. 1-12
2020
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CLN5 in heterozygosis may protect against the development of tumors in a VHL patient
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1