DEM
Desarrollo y Enfermedades Musculares
Publications (129) Publications in which a researcher has participated View referenced research data.
2024
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A Multi-Target Pharmacological Correction of a Lipoyltransferase LIPT1 Gene Mutation in Patient-Derived Cellular Models
Antioxidants, Vol. 13, Núm. 8
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Emerging mechanisms in the redox regulation of mitochondrial cytochrome c oxidase assembly and function
Biochemical Society Transactions, Vol. 52, Núm. 2, pp. 873-885
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Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation
Biomolecules, Vol. 14, Núm. 5
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The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution
Functional and Integrative Genomics, Vol. 24, Núm. 4
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Understanding underlying mechanisms in Nemaline Myopathy: the role of cardiolipin.
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 13
2023
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Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies
Antioxidants, Vol. 12, Núm. 12
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Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 80
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Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN
International Journal of Molecular Sciences, Vol. 24, Núm. 19
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Development of a tool for the study of the reproductive microbiome and its relationship with endometrial receptivity and functionality in infertility patients.
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 12
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Mitochondrial Quality Control via Mitochondrial Unfolded Protein Response (mtUPR) in Ageing and Neurodegenerative Diseases
Biomolecules, Vol. 13, Núm. 12
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Neurodegeneration, Mitochondria, and Antibiotics
Metabolites, Vol. 13, Núm. 3
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Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration
Pharmaceuticals, Vol. 16, Núm. 10
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Vicious cycle of lipid peroxidation and iron accumulation in neurodegeneration
Neural Regeneration Research, Vol. 18, Núm. 6, pp. 1196-1202
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mtUPR Modulation as a Therapeutic Target for Primary and Secondary Mitochondrial Diseases
International Journal of Molecular Sciences, Vol. 24, Núm. 2
2022
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Activation of the Mitochondrial Unfolded Protein Response: A New Therapeutic Target?
Biomedicines, Vol. 10, Núm. 7
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Modeling Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome Using Patient-Derived Induced Neurons Generated by Direct Reprogramming
Cellular reprogramming, Vol. 24, Núm. 5, pp. 294-303
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Pantothenate and L-Carnitine Supplementation Improves Pathological Alterations in Cellular Models of KAT6A Syndrome
Genes, Vol. 13, Núm. 12
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Precision medicine in ethylmalonic encephalopathy: patient derived fibroblasts for physiopathological research and finding potential therapies.
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 11
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Pterostilbene in Combination With Mitochondrial Cofactors Improve Mitochondrial Function in Cellular Models of Mitochondrial Diseases
Frontiers in Pharmacology, Vol. 13
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Study of the influence of PR-01 drug on endometrial functionality.
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 11