Publicacións (49) Publicacións de Carlos Santos Ocaña

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

2023

  1. The mitochondrial phosphatase PPTC7, ¿a biomarker of coenzyme Q10 deficiency or a therapeutic target?

    Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 12

2021

  1. Cellular models for primary coq deficiency pathogenesis study

    International Journal of Molecular Sciences, Vol. 22, Núm. 19

  2. Functional validation of CoQ deficiency fibroblast model with COQ7 mutations

    Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 10

  3. Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging

    BioFactors, Vol. 47, Núm. 4, pp. 551-569

2020

  1. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants

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

    SLAS Discovery, Vol. 25, Núm. 3, pp. 299-309

  3. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

    Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467

  4. 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

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

    Journal of Child Neurology, Vol. 34, Núm. 8, pp. 472-476

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

    Aging, Vol. 11, Núm. 18, pp. 7746-7779

2018

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

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

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

    Biochimica et Biophysica Acta - Bioenergetics, Vol. 1859, Núm. 11, pp. 1235-1248

2017

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

    Microbial Cell, Vol. 4, Núm. 2, pp. 38-51

  2. Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene

    Stem Cell Research, Vol. 24, pp. 144-147

  3. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703

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

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 114, Núm. 15, pp. E3041-E3050

2015

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

    Biogerontology, Vol. 16, Núm. 5, pp. 599-620

  2. Molecular diagnosis of coenzyme Q10 deficiency

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