Publicacions (16) Publicacions de ALMUDENA SACRISTAN REVIRIEGO

2024

  1. Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4

    Molecular Therapy Nucleic Acids, Vol. 35, Núm. 1

2023

  1. Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease

    International Journal of Molecular Sciences, Vol. 24, Núm. 6

2022

  1. Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis

    Stem Cell Reports, Vol. 17, Núm. 10, pp. 2187-2202

2020

  1. Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

    Scientific Reports, Vol. 10, Núm. 1

  2. The ubiquitin-like modifier FAT10 inhibits retinal PDE6 activity and mediates its proteasomal degradation

    Journal of Biological Chemistry, Vol. 295, Núm. 42, pp. 14402-14418

2018

  1. Corrigendum: The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6 [Human Molecular Genetics, 26, 22 (2017) (4465-4480)] doi: 10.1093/hmg/ddx334

    Human Molecular Genetics

  2. The leber congenital amaurosis-linked protein AIPL1 and its critical role in photoreceptors

    Advances in Experimental Medicine and Biology (Springer New York LLC), pp. 381-386

2017

  1. The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6

    Human Molecular Genetics, Vol. 26, Núm. 22, pp. 4465-4480

2016

  1. An analog-sensitive version of the protein kinase Slt2 allows identification of novel targets of the yeast cell wall integrity pathway

    Journal of Biological Chemistry, Vol. 291, Núm. 11, pp. 5461-5472

  2. Methods to study protein tyrosine phosphatases acting on yeast MAPKs

    Methods in Molecular Biology (Humana Press Inc.), pp. 385-398

  3. Wide-ranging effects of the yeast Ptc1 protein phosphatase acting through the MAPK kinase Mkk1

    Genetics, Vol. 202, Núm. 1, pp. 141-156

2015

  1. Identification of putative negative regulators of yeast signaling through a screening for protein phosphatases acting on cell wall integrity and mating MAPK pathways

    Fungal Genetics and Biology, Vol. 77, pp. 1-11

  2. Una versión de Slt2 sensible a análogos de ATP facilita el estudio de procesos de fosforilación por esta MAPK

    Avances en microbiología

2014

  1. A conserved non-canonical docking mechanism regulates the binding of dual specificity phosphatases to cell integrity Mitogen-Activated Protein Kinases (MAPKs) in budding and fission yeasts

    PLoS ONE, Vol. 9, Núm. 1

2011

  1. Distinct docking mechanisms mediate interactions between the Msg5 phosphatase and mating or cell integrity mitogen-activated protein kinases (MAPKs) in Saccharomyces cerevisiae

    Journal of Biological Chemistry, Vol. 286, Núm. 49, pp. 42037-42050

  2. 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