Publicaciones en colaboración con investigadores/as de University of Padua (28)

2024

  1. 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. Mitochondrial diseases: Theory, diagnosis and therapy

    Springer International Publishing, pp. 1-305

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. 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. 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

  2. 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

2014

  1. Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1842, Núm. 1, pp. 1-6

  2. Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

    Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, Vol. 1841, Núm. 11, pp. 1628-1638

2013

  1. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion, Vol. 13, Núm. 4, pp. 337-341

  2. Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: A modelling study for human coenzyme Q10 deficiencies

    BMJ Open, Vol. 3, Núm. 3

2012

  1. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191

2011

  1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    Journal of Clinical Investigation, Vol. 121, Núm. 5, pp. 2013-2024

  2. Coenzyme Q deficiency in muscle

    Current Opinion in Neurology, Vol. 24, Núm. 5, pp. 449-456

2009

  1. Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

    Autophagy, Vol. 5, Núm. 1, pp. 19-32