Publicaciones en colaboración con investigadores/as de University of Padua (6)

2024

  1. COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells

    Molecular Cell, Vol. 84, Núm. 5, pp. 981-989.e7

2021

  1. Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

    Free Radical Biology and Medicine, Vol. 167, pp. 141-180

2020

  1. Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease

    Molecular Therapy, Vol. 28, Núm. 8, pp. 1918-1930

2019

  1. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

  2. Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6

    Oxidative medicine and cellular longevity, Vol. 2019, pp. 3904905

2018

  1. Clinical syndromes associated with Coenzyme Q10 deficiency

    Essays in Biochemistry, Vol. 62, Núm. 3, pp. 377-398