Publications (141) Publications de Jose Antonio Sánchez Alcazar

2024

  1. A Multi-Target Pharmacological Correction of a Lipoyltransferase LIPT1 Gene Mutation in Patient-Derived Cellular Models

    Antioxidants, Vol. 13, Núm. 8

  2. A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study

    Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1

  3. Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation

    Biomolecules, Vol. 14, Núm. 5

  4. The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution

    Functional and Integrative Genomics, Vol. 24, Núm. 4

  5. 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

  1. Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies

    Antioxidants, Vol. 12, Núm. 12

  2. 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

  3. 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

  4. Mitochondrial Quality Control via Mitochondrial Unfolded Protein Response (mtUPR) in Ageing and Neurodegenerative Diseases

    Biomolecules, Vol. 13, Núm. 12

  5. Neurodegeneration, Mitochondria, and Antibiotics

    Metabolites, Vol. 13, Núm. 3

  6. Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration

    Pharmaceuticals, Vol. 16, Núm. 10

  7. Vicious cycle of lipid peroxidation and iron accumulation in neurodegeneration

    Neural Regeneration Research, Vol. 18, Núm. 6, pp. 1196-1202

  8. mtUPR Modulation as a Therapeutic Target for Primary and Secondary Mitochondrial Diseases

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

2022

  1. Activation of the Mitochondrial Unfolded Protein Response: A New Therapeutic Target?

    Biomedicines, Vol. 10, Núm. 7

  2. 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

  3. Pantothenate and L-Carnitine Supplementation Improves Pathological Alterations in Cellular Models of KAT6A Syndrome

    Genes, Vol. 13, Núm. 12

  4. 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

  5. Pterostilbene in Combination With Mitochondrial Cofactors Improve Mitochondrial Function in Cellular Models of Mitochondrial Diseases

    Frontiers in Pharmacology, Vol. 13

  6. Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 311

  7. UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1