The Role of Hsp90 in Retinal Proteostasis and Disease

por Ziaka, Kalliopi, van der Spuy, Jacqueline
Publicado 2022

Primate retinal cones express phosphorylated tau associated with neuronal degeneration yet survive in old age

por Aboelnour, Asmaa, Van der Spuy, Jacqueline, Powner, Michael, Jeffery, Glen
Publicado 2017

Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders

por Benati, Daniela, Leung, Amy, Perdigao, Pedro, Toulis, Vasileios, van der Spuy, Jacqueline, Recchia, Alessandra
Publicado 2022

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

por Perdigão, Pedro R. L., Ollington, Bethany, Sai, Hali, Leung, Amy, Sacristan-Reviriego, Almudena, van der Spuy, Jacqueline
Publicado 2023

The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway

por Bett, John S., Kanuga, Naheed, Richet, Emma, Schmidtke, Gunter, Groettrup, Marcus, Cheetham, Michael E., van der Spuy, Jacqueline
Publicado 2012

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

por Sacristan-Reviriego, Almudena, Bellingham, James, Prodromou, Chrisostomos, Boehm, Annika N, Aichem, Annette, Kumaran, Neruban, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline
Publicado 2017

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

por Sacristan-Reviriego, Almudena, Bellingham, James, Prodromou, Chrisostomos, Boehm, Annika N, Aichem, Annette, Kumaran, Neruban, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline
Publicado 2018

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

por Sacristan-Reviriego, Almudena, Le, Hoang Mai, Georgiou, Michalis, Meunier, Isabelle, Bocquet, Beatrice, Roux, Anne-Françoise, Prodromou, Chrisostomos, Bainbridge, James, Michaelides, Michel, van der Spuy, Jacqueline
Publicado 2020

CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs

por Sladen, Paul E., Perdigão, Pedro R.L., Salsbury, Grace, Novoselova, Tatiana, van der Spuy, Jacqueline, Chapple, J. Paul, Yu-Wai-Man, Patrick, Cheetham, Michael E.
Publicado 2021

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models

por Corral-Serrano, Julio C., Sladen, Paul E., Ottaviani, Daniele, Rezek, Olivia F., Athanasiou, Dimitra, Jovanovic, Katarina, van der Spuy, Jacqueline, Mansfield, Brian C., Cheetham, Michael E.
Publicado 2023

The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium

por Hidalgo-de-Quintana, Juan, Schwarz, Nele, Meschede, Ingrid P., Stern-Schneider, Gabriele, Powner, Michael B., Morrison, Ewan E., Futter, Clare E., Wolfrum, Uwe, Cheetham, Michael E., van der Spuy, Jacqueline
Publicado 2015

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

por Leung, Amy, Sacristan-Reviriego, Almudena, Perdigão, Pedro R.L., Sai, Hali, Georgiou, Michalis, Kalitzeos, Angelos, Carr, Amanda-Jayne F., Coffey, Peter J., Michaelides, Michel, Bainbridge, James, Cheetham, Michael E., van der Spuy, Jacqueline
Publicado 2022

CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

por Afanasyeva, Tess A.V., Athanasiou, Dimitra, Perdigao, Pedro R.L., Whiting, Kae R., Duijkers, Lonneke, Astuti, Galuh D.N., Bennett, Jean, Garanto, Alejandro, van der Spuy, Jacqueline, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W.J.
Publicado 2023