Carlos
Santos Ocaña
University of Padua
Padua, ItaliaPublikationen in Zusammenarbeit mit Forschern von University of Padua (12)
2024
-
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
-
Molecular Structure, Biosynthesis, and Distribution of Coenzyme Q
Coenzyme Q in Aging (Springer International Publishing), pp. 11-49
2019
-
ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
2018
-
Molecular diagnosis of coenzyme Q 10 deficiency: an update
Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498
2015
-
Molecular diagnosis of coenzyme Q10 deficiency
Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059
-
The genes of coenzyme Q10 biosynthesis
Coenzyme Q10: From Fact to Fiction (Nova Science Publishers, Inc.), pp. 205-225
2014
-
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
-
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
-
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191
2011
-
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Journal of Clinical Investigation, Vol. 121, Núm. 5, pp. 2013-2024
2008
-
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
-
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