Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (45)

2022

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

    Molecular metabolism, Vol. 66, pp. 101648

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

    Antioxidants, Vol. 11, Núm. 2

  3. 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

2020

  1. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants

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

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

  3. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

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

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

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

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

    Genome Biology, Vol. 21, Núm. 1

2019

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

    Scientific Reports, Vol. 9, Núm. 1

2018

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

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

  2. 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

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

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

2017

  1. Effect of Coenzyme Q10 on Psychopathological Symptoms in Fibromyalgia Patients

    CNS Neuroscience and Therapeutics

  2. Antidepressants induce autophagy dependent-NLRP3-inflammasome inhibition in Major depressive disorder

    Pharmacological Research, Vol. 121, pp. 114-121

2016

  1. AMPK Regulation of Cell Growth, Apoptosis, Autophagy, and Bioenergetics

    EXS, Vol. 107, pp. 45-71

  2. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

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

    JIMD Reports (Springer), pp. 1-7

  4. Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder

    Stem Cell Research, Vol. 16, Núm. 3, pp. 635-639

  5. Amitriptyline induces mitophagy that precedes apoptosis in human HepG2 cells

    Genes and Cancer, Vol. 7, Núm. 7-8, pp. 260-277

  6. 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease

    Mitochondrion, Vol. 28, pp. 54-59