Publications by the researcher in collaboration with Daniel Jose Moreno Fernandez-Ayala (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. 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

2017

  1. 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

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

2013

  1. Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: A modelling study for human coenzyme Q10 deficiencies

    BMJ Open, Vol. 3, Núm. 3