Publications in collaboration with researchers from Universitat de València (14)

2025

  1. Alpha–lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia

    Orphanet Journal of Rare Diseases , Vol. 20, Núm. 1

  2. Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration

    International Journal of Molecular Sciences, Vol. 26, Núm. 3

  3. Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies

    International Journal of Molecular Sciences, Vol. 26, Núm. 4

  4. Mitochondrial Unfolded Protein Response (mtUPR) Activation Improves Pathological Alterations in Cellular Models of Ethylmalonic Encephalopathy

    Antioxidants, Vol. 14, Núm. 6

  5. Polydatin and Nicotinamide Prevent Iron Accumulation and Lipid Peroxidation in Cellular Models of Mitochondrial Diseases

    Antioxidants, Vol. 14, Núm. 2

2024

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

    Antioxidants, Vol. 13, Núm. 8

2023

  1. 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

2021

  1. Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients

    Stem Cell Research, Vol. 53

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2017

  1. Fluorinated Chaperone−β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease

    Journal of Medicinal Chemistry, Vol. 60, Núm. 5, pp. 1829-1842

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  3. Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells

    Stem Cell Reports, Vol. 7, Núm. 3, pp. 411-424

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544