Publicaciones en colaboración con investigadores/as de University of Padua (12)

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

2020

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

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

2019

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

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

2018

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

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

2015

  1. Molecular diagnosis of coenzyme Q10 deficiency

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

  2. 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

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

2008

  1. Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

    Biochemical and Biophysical Research Communications, Vol. 372, Núm. 1, pp. 35-39

2007

  1. Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

    Human Molecular Genetics, Vol. 16, Núm. 9, pp. 1091-1097