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. Coenzyme Q biosynthesis disorders

    Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 143-190

  2. 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

2019

  1. 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

2016

  1. Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content

    European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372