Publicaciones en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (10)

2021

  1. Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells

    Frontiers in Neuroscience, Vol. 15

2020

  1. Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1

    Scientific Reports, Vol. 10, Núm. 1

2016

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

    Scientific Reports, Vol. 6

2015

  1. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

    Scientific Reports, Vol. 5

  2. 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

2014

  1. Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia

    Fungal Genetics and Biology, Vol. 65, pp. 69-80

2013

  1. ITRAQ-based protein profiling provides insights into the central metabolism changes driving grape berry development and ripening

    BMC Plant Biology, Vol. 13, Núm. 1

2010

  1. Fine-scale evolution: Genomic, phenotypic and ecological differentiation in two coexisting Salinibacter ruber strains

    ISME Journal, Vol. 4, Núm. 7, pp. 882-895

  2. Structural basis for the regulation of NtcA-dependent transcription by proteins PipX and PII

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 35, pp. 15397-15402

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