Publications by authors named "Almudena Sacristan-Reviriego"

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Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.
Amy Leung, Pedro R L Perdigão, Almudena Sacristan-Reviriego, Paul E Sladen, Erika A Aguzzi

Mol Ther Nucleic Acids· December 2025

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Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4.
Hali Sai, Bethany Ollington, Farah O Rezek, Niuzheng Chai, Amelia Lane, Almudena Sacristan-Reviriego

Mol Ther Nucleic Acids· March 2024

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Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease.
Pedro R L Perdigão, Bethany Ollington, Hali Sai, Amy Leung, Almudena Sacristan-Reviriego

Int J Mol Sci· March 2023

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Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis.
Amy Leung, Almudena Sacristan-Reviriego, Pedro R L Perdigão, Hali Sai, Michalis Georgiou

Stem Cell Reports· October 2022

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The ubiquitin-like modifier FAT10 inhibits retinal PDE6 activity and mediates its proteasomal degradation.
Annika N Boehm, Johanna Bialas, Nicola Catone, Almudena Sacristan-Reviriego, Jacqueline van der Spuy

J Biol Chem· October 2020

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Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.
Almudena Sacristan-Reviriego, Hoang Mai Le, Michalis Georgiou, Isabelle Meunier, Beatrice Bocquet

Sci Rep· October 2020

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The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.
Almudena Sacristan-Reviriego, Jacqueline van der Spuy

Adv Exp Med Biol· May 2019

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The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Almudena Sacristan-Reviriego, James Bellingham, Chrisostomos Prodromou, Annika N Boehm, Annette Aichem

Hum Mol Genet· April 2018

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Methods to Study Protein Tyrosine Phosphatases Acting on Yeast MAPKs.
Almudena Sacristán-Reviriego, María Molina, Humberto Martín

Methods Mol Biol· January 2018

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The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Almudena Sacristan-Reviriego, James Bellingham, Chrisostomos Prodromou, Annika N Boehm, Annette Aichem

Hum Mol Genet· November 2017

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An Analog-sensitive Version of the Protein Kinase Slt2 Allows Identification of Novel Targets of the Yeast Cell Wall Integrity Pathway.
Esmeralda Alonso-Rodríguez, Pablo Fernández-Piñar, Almudena Sacristán-Reviriego, María Molina, Humberto Martín

J Biol Chem· March 2016

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Wide-Ranging Effects of the Yeast Ptc1 Protein Phosphatase Acting Through the MAPK Kinase Mkk1.
Laura Tatjer, Almudena Sacristán-Reviriego, Carlos Casado, Asier González, Boris Rodríguez-Porrata

Genetics· January 2016

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Identification of putative negative regulators of yeast signaling through a screening for protein phosphatases acting on cell wall integrity and mating MAPK pathways.
Almudena Sacristán-Reviriego, Humberto Martín, María Molina

Fungal Genet Biol· April 2015

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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.
Almudena Sacristán-Reviriego, Marisa Madrid, José Cansado, Humberto Martín, María Molina

PLoS One· December 2014

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Distinct docking mechanisms mediate interactions between the Msg5 phosphatase and mating or cell integrity mitogen-activated protein kinases (MAPKs) in Saccharomyces cerevisiae.
Lorena Palacios, Robin J Dickinson, Almudena Sacristán-Reviriego, Mark P Didmon, María José Marín

J Biol Chem· December 2011

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Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms.
Carlos Romá-Mateo, Almudena Sacristán-Reviriego, Nicola J Beresford, José Antonio Caparrós-Martín, Francisco A Culiáñez-Macià

Mol Genet Genomics· April 2011

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