Publicacións en colaboración con investigadores/as de University of Cambridge (6)

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

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