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  1. CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

    Article • Clinical Genetics, February 2022, Wiley

    Dr Carlos Santos Ocaña

  2. The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    Article • Genes, October 2021, MDPI AG

    Dr Carlos Santos Ocaña

  3. Cellular Models for Primary CoQ Deficiency Pathogenesis Study

    Article • International Journal of Molecular Sciences, September 2021, MDPI AG

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

  4. Secondary CoQ 10 deficiency, bioenergetics unbalance in disease and aging

    Article • BioFactors, April 2021, Wiley

    Dr Carlos Santos Ocaña

  5. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

    Article • Clinical Chemistry, October 2020, Oxford University Press (OUP)

    Dr Carlos Santos Ocaña

  6. Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

    Article • Antioxidants, October 2020, MDPI AG

    Dr Carlos Santos Ocaña

  7. Design of High-Throughput Screening of Natural Extracts to Identify Molecules Bypassing Primary Coenzyme Q Deficiency in Saccharomyces cerevisiae

    Article • SLAS DISCOVERY, November 2019, SAGE Publications

    Dr Carlos Santos Ocaña

  8. The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis

    Article • Biochimica et Biophysica Acta (BBA) - Bioenergetics, November 2018, Elsevier

    Dr Carlos Santos Ocaña

  9. Structural basis of mitochondrial dysfunction in response to cytochrome c phosphorylation at tyrosine 48

    Article • Proceedings of the National Academy of Sciences, March 2017, Proceedings of the National Academy of Sciences

    Dr Carlos Santos Ocaña

  10. Balanced CoQ6 biosynthesis is required for lifespan and mitophagy in yeast

    Article • Microbial Cell, February 2017, Shared Science Publishers OG

    Dr Carlos Santos Ocaña

  11. Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q 10 deficiency harboring a heterozygous mutation in COQ4 gene

    Article • Stem Cell Research, September 2016, Elsevier

    Dr Carlos Santos Ocaña

  12. Molecular diagnosis of coenzyme Q10deficiency

    Article • Expert Review of Molecular Diagnostics, July 2015, Informa Healthcare

    Dr Carlos Santos Ocaña

  13. Mitochondrial responsibility in ageing process: innocent, suspect or guilty

    Article • Biogerontology, June 2015, Springer Science + Business Media

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

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

    Article • Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, November 2014, Elsevier

    Dr Carlos Santos Ocaña

  15. Regulation of coenzyme Q biosynthesis in yeast: A new complex in the block

    Article • IUBMB Life, January 2014, Wiley

    Dr Carlos Santos Ocaña

  16. More Q is better

    Article • Molecular Syndromology, January 2014, Karger Publishers

    Dr Carlos Santos Ocaña

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

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, January 2014, Elsevier

    Dr Carlos Santos Ocaña

  18. The Phosphatase Ptc7 Induces Coenzyme Q Biosynthesis by Activating the Hydroxylase Coq7 in Yeast

    Article • Journal of Biological Chemistry, August 2013, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Carlos Santos Ocaña

  19. Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

    Article • Journal of Medical Genetics, February 2012, BMJ

    Dr Carlos Santos Ocaña

  20. Respiratory-induced coenzyme Q biosynthesis is regulated by a phosphorylation cycle of Cat5p/Coq7p

    Article • Biochemical Journal, November 2011, Portland Press Ltd.

    Dr Carlos Santos Ocaña

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

    Article • Journal of Clinical Investigation, May 2011, American Society for Clinical Investigation

    Dr Carlos Santos Ocaña, Professor Neveen A Soliman

  22. Is coenzyme Q a key factor in aging?

    Article • Mechanisms of Ageing and Development, April 2010, Elsevier

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

  23. Genetic evidence for the requirement of the endocytic pathway in the uptake of coenzyme Q6 in Saccharomyces cerevisiae

    Article • Biochimica et Biophysica Acta (BBA) - Biomembranes, June 2009, Elsevier

    Dr Carlos Santos Ocaña

  24. NQR1 controls lifespan by regulating the promotion of respiratory metabolism in yeast

    Article • Aging Cell, April 2009, Wiley

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

  25. Hydroxylation of demethoxy-Q6 constitutes a control point in yeast coenzyme Q6 biosynthesis

    Article • Cellular and Molecular Life Sciences, November 2008, Springer Science + Business Media

    Dr Carlos Santos Ocaña

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

    Article • Biochemical and Biophysical Research Communications, July 2008, Elsevier

    Dr Carlos Santos Ocaña

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

    Article • Human Molecular Genetics, March 2007, Oxford University Press (OUP)

    Dr Carlos Santos Ocaña

  28. Coenzyme Q is irreplaceable by demethoxy-coenzyme Q in plasma membrane ofCaenorhabditis elegans

    Article • FEBS Letters, February 2006, Wiley

    Dr Carlos Santos Ocaña

  29. Demethoxy-Q, An Intermediate of Coenzyme Q Biosynthesis, Fails to Support Respiration in Saccharomyces cerevisiae and Lacks Antioxidant Activity

    Article • Journal of Biological Chemistry, April 2004, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

  30. Stabilization of Extracellular Ascorbate Mediated by Coenzyme Q Transmembrane Electron Transport

    Article • January 2004, Elsevier

    Dr Carlos Santos Ocaña

  31. Uptake of Exogenous Coenzyme Q and Transport to Mitochondria Is Required for bc 1 Complex Stability in Yeastcoq Mutants

    Article • Journal of Biological Chemistry, January 2002, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Carlos Santos Ocaña

  32. Extramitochondrial Functions of Coenzyme Q

    Article • August 2000, Taylor & Francis

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

  33. Coenzyme Q6 and Iron Reduction Are Responsible for the Extracellular Ascorbate Stabilization at the Plasma Membrane of Saccharomyces cerevisiae

    Article • Journal of Biological Chemistry, April 1998, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Carlos Santos Ocaña

  34. Article • Journal of Bioenergetics and Biomembranes, January 1998, Springer Science + Business Media

    Dr Carlos Santos Ocaña

  35. Extracellular ascorbate stabilization as a result of transplasma electron transfer inSaccharomyces cerevisiae

    Article • Journal of Bioenergetics and Biomembranes, December 1995, Springer Science + Business Media

    Dr Carlos Santos Ocaña

  36. NADH-specific dehydrogenase from onion root plasma membrane: purification and characterization

    Article • PROTOPLASMA, March 1995, Springer Science + Business Media

    Dr Carlos Santos Ocaña