Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (11)

2024

  1. Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

  3. Structure and dynamics of the cyanobacterial regulator SipA

    Archives of Biochemistry and Biophysics, Vol. 754

2023

  1. A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects

    Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 32

  2. Identification of the EH CRISPR-Cas9 system on a metagenome and its application to genome engineering

    Microbial Biotechnology, Vol. 16, Núm. 7, pp. 1505-1523

2022

  1. The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY

    Life, Vol. 12, Núm. 10

2018

  1. Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy

    Scientific Reports, Vol. 8, Núm. 1

2016

  1. Expanding the cyanobacterial nitrogen regulatory network: The GntR-like regulator PlmA interacts with the PII-PipX complex

    Frontiers in Microbiology, Vol. 7, Núm. OCT

  2. Identification of the photoreceptor transcriptional Co-Repressor SAMD11 as novel cause of autosomal recessive retinitis pigmentosa

    Scientific Reports, Vol. 6

2015

  1. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    Human Molecular Genetics, Vol. 24, Núm. 14, pp. 4037-4048

2007

  1. The crystal structure of the complex of PII and acetylglutamate kinase reveals how PII controls the storage of nitrogen as arginine

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 104, Núm. 45, pp. 17644-17649