![Foto de Carlos](/img/nophoto.png)
Carlos
Santos Ocaña
Publikationen (51) Publikationen von Carlos Santos Ocaña
2024
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Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses
Frontiers in Cellular Neuroscience, Vol. 18
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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
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2023
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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
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Cellular models for primary coq deficiency pathogenesis study
International Journal of Molecular Sciences, Vol. 22, Núm. 19
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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
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Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging
BioFactors, Vol. 47, Núm. 4, pp. 551-569
2020
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Coenzyme Q10 treatment monitoring in different human biological samples
Antioxidants
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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
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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency
Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467
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Molecular Structure, Biosynthesis, and Distribution of Coenzyme Q
Coenzyme Q in Aging (Springer International Publishing), pp. 11-49
2019
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ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 9
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Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy
Journal of Child Neurology, Vol. 34, Núm. 8, pp. 472-476
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Inadequate control of thyroid hormones sensitizes to hepatocarcinogenesis and unhealthy aging
Aging, Vol. 11, Núm. 18, pp. 7746-7779
2018
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Molecular diagnosis of coenzyme Q 10 deficiency: an update
Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498
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The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis
Biochimica et Biophysica Acta - Bioenergetics, Vol. 1859, Núm. 11, pp. 1235-1248
2017
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Balanced CoQ6 biosynthesis is required for lifespan and mitophagy in yeast
Microbial Cell, Vol. 4, Núm. 2, pp. 38-51
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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
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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
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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