Publications (44) Daniel Jose Moreno Fernandez-Ayala publications

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2025

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

    Molecular Genetics and Metabolism Reports, Vol. 42

  2. Modelling the human coenzyme Q deficiency in Drosophila melanogaster

    Free Radical Biology and Medicine, Vol. 230, pp. 95-111

2024

  1. 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

  2. New variants expand the neurological phenotype of COQ7 deficiency

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

  3. Prenatal and progressive coenzyme Q10 administration to mitigate muscle dysfunction in mitochondrial disease

    Journal of Cachexia, Sarcopenia and Muscle, Vol. 15, Núm. 6, pp. 2402-2416

2022

  1. Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

    Frontiers in Physiology, Vol. 13

  2. Isolation of Mitochondria from Mouse Skeletal Muscle for Respirometric Assays

    Journal of Visualized Experiments, Vol. 2022, Núm. 180

2021

  1. Coenzyme q at the hinge of health and metabolic diseases

    Antioxidants, Vol. 10, Núm. 11

  2. Model cells and organisms in mitochondrial diseases

    Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 231-271

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

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

2020

  1. Age-related mitochondrial dysfunction as a key factor in COVID-19 disease

    Experimental Gerontology, Vol. 142

  2. Coenzyme Q and Aging in the Fruit Fly Drosophila melanogaster

    Coenzyme Q in Aging (Springer International Publishing), pp. 141-155

2019

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

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

  2. Essential Physiological Differences Characterize Short- and Long-Lived Strains of Drosophila melanogaster

    Journals of Gerontology - Series A Biological Sciences and Medical Sciences, Vol. 74, Núm. 12, pp. 1835-1843

  3. 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

2018

  1. Mitochondrial dysfunction in metabolism and ageing: shared mechanisms and outcomes?

    Biogerontology, Vol. 19, Núm. 6, pp. 461-480

  2. The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis

    Biochimica et Biophysica Acta - Bioenergetics, Vol. 1859, Núm. 11, pp. 1235-1248

2017

  1. Biochemical assessment of coenzyme Q10 deficiency

    Journal of Clinical Medicine, Vol. 6, Núm. 3

  2. 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

  3. Role of mitochondrial reverse electron transport in ROS signaling: Potential roles in health and disease

    Frontiers in Physiology, Vol. 8, Núm. JUN