The Role of Hsp90 in Retinal Proteostasis and Disease von Ziaka, Kalliopi, van der Spuy, Jacqueline

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

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

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Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy von Mendes, Hugo F., van der Spuy, Jacqueline, Chapple, J. Paul, Cheetham, Michael E.

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Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4 von Sai, Hali, Ollington, Bethany, Rezek, Farah O., Chai, Niuzheng, Lane, Amelia, Georgiadis, Anastasios, Bainbridge, James, Michaelides, Michel, Sacristan-Reviriego, Almudena, Perdigão, Pedro R.L., Leung, Amy, van der Spuy, Jacqueline

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The Role of HSP70 and Its Co-chaperones in Protein Misfolding, Aggregation and Disease von Duncan, Emma J., Cheetham, Michael E., Chapple, J. Paul, van der Spuy, Jacqueline

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The Role of the Aryl Hydrocarbon Receptor-Interacting Protein Gene in Familial and Sporadic Pituitary Adenomas von Leontiou, Chrysanthia A., Gueorguiev, Maria, van der Spuy, Jacqueline, Quinton, Richard, Lolli, Francesca, Hassan, Sevda, Chahal, Harvinder S., Igreja, Susana C., Jordan, Suzanne, Rowe, Janice, Stolbrink, Marie, Christian, Helen C., Wray, Jessica, Bishop-Bailey, David, Berney, Dan M., Wass, John A. H., Popovic, Vera, Ribeiro-Oliveira, Antônio, Gadelha, Monica R., Monson, John P., Akker, Scott A., Davis, Julian R. E., Clayton, Richard N., Yoshimoto, Katsuhiko, Iwata, Takeo, Matsuno, Akira, Eguchi, Kuniki, Musat, Mâdâlina, Flanagan, Daniel, Peters, Gordon, Bolger, Graeme B., Chapple, J. Paul, Frohman, Lawrence A., Grossman, Ashley B., Korbonits, Márta

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Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models von 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

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

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Preserved Outer Retina in AIPL1 Leber's Congenital Amaurosis: Implications for Gene Therapy von Aboshiha, Jonathan, FRCOphth, Dubis, Adam M., PhD, van der Spuy, Jacqueline, PhD, Nishiguchi, Koji M., MD, PhD, Cheeseman, Edward W., MD, MBA, Ayuso, Carmen, MD, PhD, Ehrenberg, Miriam, MD, Simonelli, Francesca, MD, Bainbridge, James W., PhD, FRCOphth, Michaelides, Michel, MD, FRCOphth

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The Leber Congenital Amaurosis Protein AIPL1 Functions as Part of a Chaperone Heterocomplex von Hidalgo-de-Quintana, Juan, Evans, R. Jane, Cheetham, Michael E, van der Spuy, Jacqueline

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The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium von 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

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The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway von Bett, John S, Kanuga, Naheed, Richet, Emma, Schmidtke, Gunter, Groettrup, Marcus, Cheetham, Michael E, van der Spuy, Jacqueline

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The Leber Congenital Amaurosis Protein AIPL1 Modulates the Nuclear Translocation of NUB1 and Suppresses Inclusion Formation by NUB1 Fragments von van der Spuy, Jacqueline, Cheetham, Michael E

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Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders von Benati, Daniela, Leung, Amy, Perdigao, Pedro, Toulis, Vasileios, van der Spuy, Jacqueline, Recchia, Alessandra

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Primate retinal cones express phosphorylated tau associated with neuronal degeneration yet survive in old age von Aboelnour, Asmaa, Van der Spuy, Jacqueline, Powner, Michael, Jeffery, Glen

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A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen von de Guimarães, Thales A C, Kalitzeos, Angelos, Mahroo, Omar A, van der Spuy, Jacqueline, Webster, Andrew R, Michaelides, Michel

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THE ROLE OF NUB1 IN THE CLEARANCE OF TAU AGGREGATES IN ALZHEIMER'S DISEASE von Guarascio, Rosellina, van der Spuy, Jacqueline

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

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Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy–lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment von Guarascio, Rosellina, Salih, Dervis, Yasvoina, Marina, Edwards, Frances A, Cheetham, Michael E, van der Spuy, Jacqueline

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