Publicaciones en colaboración con investigadoras/es de Instituto de Investigación Sanitaria La Fe (22)

2022

  1. Methionine Cycle Rewiring by Targeting miR-873-5p Modulates Ammonia Metabolism to Protect the Liver from Acetaminophen

    Antioxidants, Vol. 11, Núm. 5

  2. The spike of SARS-CoV-2 promotes metabolic rewiring in hepatocytes

    Communications Biology, Vol. 5, Núm. 1

2021

  1. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Liver osteopontin is required to prevent the progression of age-related nonalcoholic fatty liver disease

    Aging Cell, Vol. 19, Núm. 8

  2. The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

    Cells, Vol. 9, Núm. 1

2019

  1. Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

    PLoS Genetics, Vol. 15, Núm. 6

  2. Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

    Anales de Pediatria, Vol. 90, Núm. 2, pp. 125.e1-125.e12

2018

  1. Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model

    Journal of Physiology, Vol. 596, Núm. 6, pp. 1035-1061

2017

  1. TIAM1 variants improve clinical outcome in neuroblastoma

    Oncotarget, Vol. 8, Núm. 28, pp. 45286-45297

2016

  1. Analysis of plasminogen genetic variants in multiple sclerosis patients

    G3: Genes, Genomes, Genetics, Vol. 6, Núm. 7, pp. 2073-2079

2015

  1. A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis

    Human Molecular Genetics, Vol. 24, Núm. 19, pp. 5619-5627

  2. Genome-wide significant association with seven novel multiple sclerosis risk loci

    Journal of Medical Genetics, Vol. 52, Núm. 12, pp. 848-855

  3. Pharmacogenomic study in patients with multiple sclerosis Responders and nonresponders to IFN-β

    Neurology: Neuroimmunology and NeuroInflammation, Vol. 2, Núm. 5, pp. e154

2014

  1. Human endogenous retrovirus HERV-Fc1 association with multiple sclerosis susceptibility: A meta-analysis

    PLoS ONE, Vol. 9, Núm. 3

  2. Involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma

    PLoS ONE, Vol. 9, Núm. 4

2013

  1. Fine Mapping and Functional Analysis of the Multiple Sclerosis Risk Gene CD6

    PLoS ONE, Vol. 8, Núm. 4

  2. Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

    Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33

  3. NUPR1 works against the metabolic stress-induced autophagy-associated cell death in pancreatic cancer cells

    Autophagy, Vol. 9, Núm. 1, pp. 95-97

2012

  1. A cytokine gene screen uncovers SOCS1 as genetic risk factor for multiple sclerosis

    Genes and Immunity, Vol. 13, Núm. 1, pp. 21-28

  2. ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

    Genes and Immunity, Vol. 13, Núm. 3, pp. 253-257