Bioquímica y Biología Molecular
Département
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications en collaboration avec des chercheurs 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