Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (29)

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

2023

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

    eLife, Vol. 12

2020

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

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

  2. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants

  3. Na+ controls hypoxic signalling by the mitochondrial respiratory chain

    Nature, Vol. 586, Núm. 7828, pp. 287-291

  4. The Current Coenzyme Q Science and Knowledge

    Coenzyme Q in Aging (Springer International Publishing), pp. 3-9

2019

  1. Plasma coenzyme Q10 status is impaired in selected genetic conditions

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

  2. Cellular and molecular mechanisms of recessive hereditary methaemoglobinaemia type II

    Journal of Clinical Medicine, Vol. 7, Núm. 10

2016

  1. Coenzyme Q10 and pyridoxal phosphate deficiency is a common feature in mucopolysaccharidosis type III

    JIMD Reports (Springer), pp. 1-7

  2. 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

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

    Mitochondrion, Vol. 30, pp. 51-58

2015

  1. Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population

    BioFactors, Vol. 41, Núm. 6, pp. 424-430

  2. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

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. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion, Vol. 13, Núm. 4, pp. 337-341

  2. 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

2012

  1. Dietary oil modifies the plasma proteome during aging in the rat

    Age, Vol. 34, Núm. 2, pp. 341-358

  2. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191