Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (18)

2024

  1. Circulating miR-28-5p is overexpressed in patients with sarcopenia despite long-term remission of Cushing’s syndrome: a pilot study

    Frontiers in Endocrinology, Vol. 15

2023

  1. Oxidative Stress and Epigenetics: miRNA Involvement in Rare Autoimmune Diseases

    Antioxidants, Vol. 12, Núm. 4

2021

  1. Epigenetics in spine curvature disorders

    Epigenetics in Precision Medicine (Elsevier), pp. 449-469

  2. Translational epigenetics in precision medicine of colorectal cancer

    Epigenetics in Precision Medicine (Elsevier), pp. 19-41

2020

  1. Oxidative stress, a crossroad between rare diseases and neurodegeneration

    Antioxidants, Vol. 9, Núm. 4

  2. Thioredoxin and glutaredoxin systems as potential targets for the development of new treatments in Friedreich’s ataxia

    Antioxidants, Vol. 9, Núm. 12, pp. 1-25

2019

  1. Corrigendum to “A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration” [Biochim. Biophys. Acta 1863 (2017) 801–809](S0925443917300078)(10.1016/j.bbadis.2017.01.003)

    Biochimica et Biophysica Acta - Molecular Basis of Disease

  2. Epigenetic Regulation in the Pathogenesis of Sjögren Syndrome and Rheumatoid Arthritis

    Frontiers in Genetics, Vol. 10

  3. Epigenetic biomarkers for disease diagnosis

    Prognostic Epigenetics (Elsevier), pp. 21-44

2018

  1. Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening

    Redox Biology, Vol. 14, pp. 398-408

  2. Oxidative stress and the epigenetics of cell senescence: Insights from progeroid syndromes

    Current Pharmaceutical Design, Vol. 24, Núm. 40, pp. 4755-4770

  3. Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients

    Scientific Data, Vol. 5

2017

  1. A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1863, Núm. 3, pp. 801-809

  2. Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients

    Scientific Reports, Vol. 7, Núm. 1

  3. Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory

    Critical Reviews in Clinical Laboratory Sciences, Vol. 54, Núm. 7-8, pp. 529-550

2015

  1. Increased Oxidative Stress and Impaired Antioxidant Response in Lafora Disease

    Molecular Neurobiology, Vol. 51, Núm. 3, pp. 932-946

  2. Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: Implications for the Charcot-Marie-Tooth neuropathy

    Human Molecular Genetics, Vol. 24, Núm. 1, pp. 21-36

2013

  1. Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells

    Free Radical Biology and Medicine, Vol. 65, pp. 347-359