Publications by the researcher in collaboration with Carlos Gómez Marin (14)
2024
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COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells
Molecular Cell, Vol. 84, Núm. 5, pp. 981-989.e7
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
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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Coenzyme Q biosynthesis disorders
Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 143-190
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Pathophysiology of primary COQ10 deficiencies. Molecular characterisation of COQ4 gene
Pathophysiology of primary COQ10 deficiencies. Molecular characterisation of COQ4 gene
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Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations
Free Radical Biology and Medicine, Vol. 167, pp. 141-180
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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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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
2019
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Study of the genotype-phenotype correlation in fibroblasts of patients with mutations in COQ4
Biosaia: Revista de los másteres de Biotecnología Sanitaria y Biotecnología Ambiental, Industrial y Alimentaria, Núm. 8
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Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6
Oxidative medicine and cellular longevity, Vol. 2019, pp. 3904905
2018
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Clinical syndromes associated with Coenzyme Q10 deficiency
Essays in Biochemistry, Vol. 62, Núm. 3, pp. 377-398
2016
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Coenzyme Q biosynthesis and its role in the respiratory chain structure
Biochimica et Biophysica Acta - Bioenergetics, Vol. 1857, Núm. 8, pp. 1073-1078
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
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Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content
European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372