Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (59)

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

  3. Peroxynitrite is involved in the mitochondrial dysfunction induced by Sorafenib in liver cancer cells

    Free Radical Biology and Medicine, Vol. 229, pp. 251-263

2024

  1. Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses

    Frontiers in Cellular Neuroscience, Vol. 18

  2. Cognitive Reserve and Frontotemporal Disorders: Exploring the Relationship Between Education, Physical Activity, and Cognitive Dysfunction in Older Adults

    Perceptual and Motor Skills, Vol. 131, Núm. 3, pp. 720-736

  3. Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    Antioxidants, Vol. 13, Núm. 8

  4. 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

  5. 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

  6. The Evolution of Physical Performance throughout an Entire Season in Female Football Players

    Sports, Vol. 12, Núm. 2

  7. The Ubiquitous and Multifaceted Coenzyme Q

    Antioxidants

  8. The association of circulating bioenergetic metabolites with healthy human aging

    Experimental Gerontology, Vol. 194

2023

  1. Coenzyme Q10 Levels Associated With Cognitive Functioning and Executive Function in Older Adults

    The journals of gerontology. Series A, Biological sciences and medical sciences, Vol. 78, Núm. 1, pp. 1-8

  2. Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis

    eLife, Vol. 12

2022

  1. Cardiac fibroblasts display endurance to ischemia, high ROS control and elevated respiration regulated by the JAK2/STAT pathway

    FEBS Journal, Vol. 289, Núm. 9, pp. 2540-2561

  2. Levels of Plasma Coenzyme Q10 Are Associated with Physical Capacity and Cardiovascular Risk in the Elderly

    Antioxidants, Vol. 11, Núm. 2

  3. Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

    Molecular metabolism, Vol. 66, pp. 101648

2021

  1. Model cells and organisms in mitochondrial diseases

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

2020

  1. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

    Genome Biology, Vol. 21, Núm. 1

  2. Clinical presentation and proteomic signature of patients with TANGO2 mutations

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308

  3. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants