Publicaciones en colaboración con investigadores/as de Instituto de Biomedicina de Valencia (12)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

2022

  1. Mitochondrial bioenergetics boost macrophage activation, promoting liver regeneration in metabolically compromised animals

    Hepatology, Vol. 75, Núm. 3, pp. 550-566

2021

  1. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

  2. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

2016

  1. Mutations in TrkA causing congenital insensitivity to pain with anhidrosis (CIPA) induce misfolding, aggregation, and mutation-dependent neurodegeneration by dysfunction of the autophagic flux

    Journal of Biological Chemistry, Vol. 291, Núm. 41, pp. 21363-21374

2013

  1. PINK1 regulates histone H3 trimethylation and gene expression by interaction with the polycomb protein EED/WAIT1

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 110, Núm. 36, pp. 14729-14734

2011

  1. Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms

    Molecular Genetics and Genomics, Vol. 285, Núm. 4, pp. 341-354

2008

  1. Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients

    Journal of Human Genetics, Vol. 53, Núm. 5, pp. 460-466

2006

  1. The nitrate/nitrite ABC transporter of Phormidium laminosum: Phosphorylation state of NrtA is not involved in its substrate binding activity

    Biochimica et Biophysica Acta - General Subjects, Vol. 1760, Núm. 2, pp. 172-181

2005

  1. A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease

    Neurology, Vol. 64, Núm. 9, pp. 1578-1585

1999

  1. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.

    Human mutation, Vol. 14, Núm. 4, pp. 352-353