Publications by authors named "Michael Cheetham"

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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, Michael E Cheetham

Mol Ther Nucleic Acids· December 2025

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J-domain proteins: from molecular mechanisms to diseases.
Janine Kirstein, Rina Rosenzweig, Paolo De Los Rios, Pierre Genevaux, Charlotte Adang, Michael E Cheetham

Cell Stress Chaperones· December 2025

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Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant.
Rosellina Guarascio, Kalliopi Ziaka, Kwan-Leong Hau, Davide Piccolo, Sara Eliza Nieuwenhuis, Michael E Cheetham

Cell Death Discov· October 2025

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Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.
Alexis Ceecee Britten-Jones, Saoud Al-Khuzaei, Matteo Rizzi, Michael D Crossland, Malgorzata B Rozanowska, Michael E Cheetham

Transl Vis Sci Technol· September 2025

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CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy.
Giada Becchi, Michael Whitehead, Joshua P Harvey, Paul E Sladen, Mohammed Dushti, Michael E Cheetham

Int J Mol Sci· July 2025

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Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids.
Davide Piccolo, Paul Sladen, Rosellina Guarascio, Kalliopi Ziaka, Michael E Cheetham

Invest Ophthalmol Vis Sci· July 2025

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Digitalizing English-language CT Interpretation for Positive Haemorrhage Evaluation Reporting: the DECIPHER study.
Ben Bloom, Adrian Haimovich, Jason Pott, Sophie L Williams, Michael Cheetham

BMJ Health Care Inform· July 2025

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RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Malena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, Kalliopi Ziaka, Monica Aguila, Michael E Cheetham

Invest Ophthalmol Vis Sci· July 2025

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Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.
Dimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, Kalliopi Ziaka, Katarina Jovanovic, Michael E Cheetham

Acta Neuropathol Commun· May 2025

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A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, Karolina Kaminska, Katarina Jovanovic, Michael E Cheetham

Hum Mol Genet· April 2025

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Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.
Jessica C Gardner, Katarina Jovanovic, Daniele Ottaviani, Uirá Souto Melo, Joshua Jackson, Michael E Cheetham

Am J Hum Genet· March 2025

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Light as a Mediator of Acute and Chronic Retina Degeneration.
Rosellina Guarascio, Michael E Cheetham

Adv Exp Med Biol· February 2025

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Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.
Dimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, Kalliopi Ziaka, Katarina Jovanovic, Michael E Cheetham

Acta Neuropathol Commun· February 2025

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Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells.
Michael Whitehead, Joshua P Harvey, Paul E Sladen, Giada Becchi, Kritarth Singh, Michael E Cheetham

Acta Neuropathol Commun· February 2025

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Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Freddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, Beatriz Sanchez-Pintado, Marcos Costa, Michael E Cheetham

Eur J Hum Genet· December 2024

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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Michael E Cheetham

EBioMedicine· October 2024

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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
Suzanne E de Bruijn, Daan M Panneman, Nicole Weisschuh, Elizabeth L Cadena, Erica G M Boonen, Michael E Cheetham

Front Genet· October 2024

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RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.
Michalis Georgiou, Anthony G Robson, Sami H Uwaydat, Marco H Ji, Ahmed F Shakarchi, Michael E Cheetham

Am J Ophthalmol· May 2024

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Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity.
Marzena Kurzawa-Akanbi, Nikolaos Tzoumas, Julio C Corral-Serrano, Rosellina Guarascio, David H Steel, Michael E Cheetham

Prog Retin Eye Res· May 2024

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Michael E Cheetham

PLoS Genet· May 2024

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A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Davide Piccolo, Christina Zarouchlioti, James Bellingham, Rosellina Guarascio, Kalliopi Ziaka, Michael E Cheetham

Int J Mol Sci· April 2024

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Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
Nuria Suárez-Herrera, Iris B Riswick, Irene Vázquez-Domínguez, Lonneke Duijkers, Dyah W Karjosukarso, Michael E Cheetham

Mol Ther· March 2024

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Increasing Effectiveness and Equity in Strengthening Health Research Capacity Using Data and Metrics: Recent Advances of the ESSENCE Mechanism.
Peter H Kilmarx, Thabi Maitin, Taghreed Adam, Garry Aslanyan, Michael Cheetham

Ann Glob Health· June 2023

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CRISPR-Cas9 correction of a nonsense mutation in rescues lebercilin expression and localization in human retinal organoids.
Tess A V Afanasyeva, Dimitra Athanasiou, Pedro R L Perdigao, Kae R Whiting, Lonneke Duijkers, Michael E Cheetham

Mol Ther Methods Clin Dev· June 2023

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Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
Julio C Corral-Serrano, Paul E Sladen, Daniele Ottaviani, Olivia F Rezek, Dimitra Athanasiou, Michael E Cheetham

Cells· June 2023

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