Publications by the researcher in collaboration with Gloria Teresa Brea Calvo (7)

2025

  1. Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

    Molecular Genetics and Metabolism Reports, Vol. 42

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease, Vol. 47, Núm. 5, pp. 1047-1068

2021

  1. Cellular models for primary coq deficiency pathogenesis study

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

  2. 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. RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7

    RNA Biology, Vol. 13, Núm. 7, pp. 622-634

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

    Mitochondrion, Vol. 30, pp. 51-58