Publicaciones en las que colabora con Ana María Sánchez Cuesta (6)

2024

  1. 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

  2. COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction

    European Journal of Human Genetics, Vol. 32, Núm. 8, pp. 938-946

  3. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2021

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

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

2019

  1. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

2016

  1. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58