Publicaciones en colaboración con investigadores/as de University of Padua (38)

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

  2. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

2021

  1. Coenzyme Q biosynthesis disorders

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

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

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

  3. Mitochondrial diseases: Theory, diagnosis and therapy

    Springer International Publishing, pp. 1-305

  4. 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. Molecular Structure, Biosynthesis, and Distribution of Coenzyme Q

    Coenzyme Q in Aging (Springer International Publishing), pp. 11-49

  2. 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. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

  2. Clinical syndromes associated with Coenzyme Q10 deficiency

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

  3. Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

    Human Mutation, Vol. 39, Núm. 3, pp. 406-414

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. 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

  4. The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency

    Human Molecular Genetics, Vol. 25, Núm. 19, pp. 4256-4265

2015

  1. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

  2. Primary coenzyme Q 10 deficiency presenting as fatal neonatal multiorgan failure

    European Journal of Human Genetics, Vol. 23, Núm. 9, pp. 1254-1258

  3. The genes of coenzyme Q10 biosynthesis

    Coenzyme Q10: From Fact to Fiction (Nova Science Publishers, Inc.), pp. 205-225