Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)

2025

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

    Molecular Genetics and Metabolism Reports, Vol. 42

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

2020

  1. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

    Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467

2018

  1. Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction

    Biochimica et Biophysica Acta - General Subjects, Vol. 1862, Núm. 5, pp. 1157-1167

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

2014

  1. Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC Pediatrics, Vol. 14, Núm. 1

  2. Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2

    Antioxidants and Redox Signaling, Vol. 21, Núm. 12, pp. 1708-1725

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