Publicacións en colaboración con investigadores/as de University of Cambridge (14)

2023

  1. Erratum: Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (Nature genetics (2020) 52 3 (306-319))

    Nature genetics

2021

  1. Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

    Nature Medicine, Vol. 27, Núm. 9, pp. 1564-1575

2020

  1. Metabolic effects of bezafibrate in mitochondrial disease

    EMBO Molecular Medicine, Vol. 12, Núm. 3

  2. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

    Nature Genetics, Vol. 52, Núm. 3, pp. 306-319

2018

  1. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

    Brain, Vol. 141, Núm. 1, pp. 55-62

2017

  1. Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations

    PLoS Genetics, Vol. 13, Núm. 12

  2. Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ

    Journal of Allergy and Clinical Immunology, Vol. 140, Núm. 5, pp. 1461-1464.e8

  3. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

    PLoS Genetics, Vol. 13, Núm. 3

2010

  1. Ghrelin effects on neuropeptides in the rat hypothalamus depend on fatty acid metabolism actions on BSX but not on gender

    FASEB Journal, Vol. 24, Núm. 8, pp. 2670-2679

  2. Hypothalamic AMPK and fatty acid metabolism mediate thyroid regulation of energy balance

    Nature Medicine, Vol. 16, Núm. 9, pp. 1001-1008

2008

  1. Bsx, a novel hypothalamic factor linking feeding with locomotor activity, is regulated by energy availability

    Endocrinology, Vol. 149, Núm. 6, pp. 3009-3015

  2. Central resistin regulates hypothalamic and peripheral lipid metabolism in a nutritional-dependent fashion

    Endocrinology, Vol. 149, Núm. 9, pp. 4534-4543

  3. Hypothalamic Fatty Acid Metabolism Mediates the Orexigenic Action of Ghrelin

    Cell Metabolism, Vol. 7, Núm. 5, pp. 389-399

2007

  1. Orexin expression is regulated by α-melanocyte-stimulating hormone

    Journal of Neuroendocrinology, Vol. 19, Núm. 9, pp. 703-707