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  1. Modelling the human coenzyme Q deficiency in Drosophila melanogaster

    Article • Free Radical Biology and Medicine, March 2025, Elsevier

    Dr Carlos Santos Ocaña

  2. Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

    Article • Brain Communications, January 2025, Oxford University Press (OUP)

    Dr Carlos Santos Ocaña

  3. Prenatal and progressive coenzyme Q10 administration to mitigate muscle dysfunction in mitochondrial disease

    Article • Journal of Cachexia Sarcopenia and Muscle, October 2024, Wiley

    PhD. Guillermo Lopez-Lluch, Dr Carlos Santos Ocaña

  4. Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    Article • Antioxidants, August 2024, MDPI AG

    Dr Carlos Santos Ocaña

  5. New variants expand the neurological phenotype of COQ7 deficiency

    Article • Journal of Inherited Metabolic Disease, July 2024, Wiley

    Dr Carlos Santos Ocaña

  6. Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses

    Article • Frontiers in Cellular Neuroscience, June 2024, Frontiers

    Dr Carlos Santos Ocaña

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

    Article • European Journal of Human Genetics, February 2024, Springer Science + Business Media

    Dr Carlos Santos Ocaña

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

    Article • Clinical Genetics, February 2022, Wiley

    Dr Carlos Santos Ocaña, Daniel Grinberg

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

    Article • Genes, October 2021, MDPI AG

    Dr Carlos Santos Ocaña

  10. 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

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

    Article • BioFactors, April 2021, Wiley

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

  12. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

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

    Dr Carlos Santos Ocaña

  13. Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

    Article • Antioxidants, October 2020, MDPI AG

    Dr Carlos Santos Ocaña

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

    Article • January 2020, Springer Science + Business Media

    Dr Carlos Santos Ocaña

  15. 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

  16. Inadequate control of thyroid hormones sensitizes to hepatocarcinogenesis and unhealthy aging

    Article • Aging, September 2019, Impact Journals, LLC

    MARIA GARCIA FERNANDEZ, Dr Carlos Santos Ocaña

  17. ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

    Article • Journal of Clinical Medicine, September 2019, MDPI AG

    PhD. Guillermo Lopez-Lluch, Dr Carlos Santos Ocaña

  18. Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

    Article • Journal of Child Neurology, April 2019, SAGE Publications

    Alastair MacLennan, Sara Lewis, Dr Carlos Santos Ocaña

  19. 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

  20. Molecular diagnosis of coenzyme Q10 deficiency: an update

    Article • Expert Review of Molecular Diagnostics, May 2018, Taylor & Francis

    Dr Carlos Santos Ocaña

  21. Cerebral palsy and genomics: an international consortium

    Article • Developmental Medicine & Child Neurology, January 2018, Wiley

    Dr Carlos Santos Ocaña

  22. 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

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

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

    Dr Carlos Santos Ocaña

  24. 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

  25. Molecular diagnosis of coenzyme Q10deficiency

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

    Dr Carlos Santos Ocaña

  26. 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

  27. 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

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

    Article • IUBMB Life, January 2014, Wiley

    Dr Carlos Santos Ocaña

  29. More Q is better

    Article • Molecular Syndromology, January 2014, Karger Publishers

    Dr Carlos Santos Ocaña

  30. 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

  31. 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

  32. Haploinsufficiency ofCOQ4causes coenzyme Q10deficiency

    Article • Journal of Medical Genetics, February 2012, BMJ

    Dr Carlos Santos Ocaña

  33. 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

  34. 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, Dr. Rezan Topaloglu

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

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

    Article • FEBS Letters, February 2006, Wiley

    Dr Carlos Santos Ocaña

  42. 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

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

    Article • January 2004, Elsevier

    Dr Carlos Santos Ocaña

  44. 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

  45. Extramitochondrial Functions of Coenzyme Q

    Article • August 2000, Taylor & Francis

    Dr Carlos Santos Ocaña, PhD. Guillermo Lopez-Lluch

  46. 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

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

    Dr Carlos Santos Ocaña

  48. 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

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

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

    Dr Carlos Santos Ocaña