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ARVO Annual Meeting Abstract July 2019

Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

Rob W J Collin; Mubeen Khan; Riccardo Sangermano; Sarah Naessens; Miriam Bauwens; Carel C B Hoyng; Frauke Coppieters; Silvia Albert; Michael E Cheetham; Elfride De Baere; Frans P Cremers; Alex Garanto

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3401. doi:

ARVO Annual Meeting Abstract July 2019

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

Artur V Cideciyan; Samuel G Jacobson; Arlene V Drack; Allen C Ho; Alexandra Garafalo; Alejandro J Roman; Mike Schwartz; Patricia Biasutto; Wilma de Wit; Michael E Cheetham; Peter S Adamson; David Rodman; Julie De Zaeytijd; Caroline Van Cauwenbergh; Bart P Leroy; Stephen R Russell

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1834. doi:

ARVO Annual Meeting Abstract July 2019

Modelling Autosomal Dominant Optic Atrophy using Induced Pluripotent Stem Cells

Paul Edward Sladen; Katarina Jovanovic; Mònica Aguilà; Patrick Yu-Wai-Man; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2864. doi:

ARVO Annual Meeting Abstract July 2019

Generation of Induced Pluripotent Stem Cell Models of Dominant Retinitis Pigmentosa

Kwan-Leong Hau; Kelly Ziaka; Rosellina Guarascio; Dimitra Athanasiou; Mònica Aguilà; James Bellingham; Edward Bloch; Lyndon Da Cruz; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2869. doi:

ARVO Annual Meeting Abstract July 2019

Modelling RP2 retinitis pigmentosa using iPSC derived retinal organoids

Amelia Lane; Katarina Jovanovic; Daniele Ottaviani; Anna Brugulat-Panes; Ciara Shortall; G. Jane Farrar; Alison J Hardcastle; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2870. doi:

ARVO Annual Meeting Abstract July 2019

Temporal resolution of alternative splicing in the developing human retina using 3D retinal organoids

Daniele Ottaviani; Amelia Lane; David A Parfitt; Katarina Jovanovic; Paul Edward Sladen; Jessica Clare Gardner; Alison J Hardcastle; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3333. doi:

ARVO Annual Meeting Abstract July 2019

Development of knock in (KI) mouse models of rhodopsin retinitis pigmentosa

Kelly Ziaka; Kwan-Leong Hau; Dimitra Athanasiou; Rosellina Guarascio; Mònica Aguilà; James Bellingham; Smriti A. Agrawal; Yumei Li; Rui Chen; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):441. doi:

ARVO Annual Meeting Abstract July 2018

The role of protein biogenesis, trafficking and ER homeostasis in retinitis pigmentosa

Michael E. Cheetham

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3. doi:

ARVO Annual Meeting Abstract July 2018

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Alice E Davidson; Christina Zarouchlioti; Beatriz Sanchez-Pintado; Nathaniel Hafford Tear; Pontus Klein; Petra Liskova; Kalyan Dulla; Kirithika Muthusamy; Lubica Dudakova; Pavlina Skalicka; Pirro G Hysi; Michael E. Cheetham; Stephen J. Tuft; Peter S Adamson; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3022. doi:

ARVO Annual Meeting Abstract July 2018

Probing the function of Arl3 in CRISPR modified cell models

Katarina Jovanovic; Amelia Lane; Nele Schwarz; Alison J Hardcastle; Michael E. Cheetham

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3061. doi:

ARVO Annual Meeting Abstract July 2018

Whole genome analysis of inherited retinal disease patients reveals mutations intractable to other detection strategies

Gavin Arno; Keren J Carss; Michael Niblock; Naushin Waseem; Michael E. Cheetham; Michel Michaelides; Anthony T Moore; F Lucy Raymond; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4467. doi:

ARVO Annual Meeting Abstract July 2018

Pharmacological stimulation of the cell stress responses as a therapy for rhodopsin RP

Dimitra Athanasiou; Gavin Pang; JAMES BELLINGHAM; MONICA AGUILA; Chikwado A Opefi; Philip J Reeves; Michael E. Cheetham

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4504. doi:

ARVO Annual Meeting Abstract June 2017

QR-110 Treatment for Leber’s Congenital Amaurosis Type 10: Restoration of CEP290 mRNA Levels and Ciliation in LCA10 iPSC-Derived Optic Cups

Patricia Biasutto; Kalyan Dulla; Peter Adamson; Iris Schulkens; Iris Schmidt; Amelia Lane; Monica Aguila; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):249. doi:

ARVO Annual Meeting Abstract June 2017

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Alessia Fiorentino; Gavin Arno; Nikolas Pontikos; Kaoru Fujinami; Takaaki Hayashi; Vincent Plagnol; Michael E Cheetham; Takeshi Iwata; Andrew R Webster; Michel Michaelides; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1243. doi:

ARVO Annual Meeting Abstract June 2015

Improvement of P23H rod opsin traffic after metformin treatment accelerates the rate of retinal degeneration in P23H retinitis pigmentosa

Dimitra Athanasiou; Monica Aguila; Kieron South; Dalila Bevilacqua; Francesca Mackenzie; Peter M Munro; Michael Y Sherman; Philip J Reeves; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1701. doi:

Genetics April 2015

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy

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Gavin Arno; Sarah Hull; Anthony G. Robson; Graham E. Holder; Michael E. Cheetham; Andrew R. Webster; Vincent Plagnol; Anthony T. Moore
TAGS: mutation, retinal cone, family, homozygote, myopia, retinol binding proteins, rod photoreceptors, mutation, nonsense, e2f1 gene, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(4):2358-2365. doi: 10.1167/iovs.15-16520

Genetics January 2015

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

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Alice E. Davidson; Edmondo Borasio; Petra Liskova; Arif O. Khan; Hala Hassan; Michael E. Cheetham; Vincent Plagnol; Fowzan S. Alkuraya; Stephen J. Tuft; Alison J. Hardcastle
TAGS: phenotype, mutation, cohort studies, corneal diseases, keratoconus, segregation analysis, ehlers-danlos syndrome 6b
Invest. Ophthalmol. Vis. Sci.. 2015; 56(1):578-586. doi: 10.1167/iovs.14-15792

Includes: Supplemental Content

Research Highlight October 2012

Unpicking the UPR

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Michael E. Cheetham

Invest. Ophthalmol. Vis. Sci.. 2012; 53(11):7167-7167. doi: 10.1167/iovs.12-11004

ARVO Annual Meeting Abstract March 2012

A Targeted Next-Generation Sequencing Approach for Identification of the X-linked RP23 Gene

David A. Parfitt; Tom R. Webb; Jessica C. Gardner; Jacob Ressa; Marina Apergi; Naheed Kanuga; Ariadna Martinez; Michael E. Cheetham; Michael B. Gorin; Alison J. Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1209. doi:

ARVO Annual Meeting Abstract March 2012

The Molecular Chaperone BiP Maintains Rod Opsin Mobility in the Endoplasmic Reticulum

Dimitra Athanasiou; Maria Kosmaoglou; Naheed Kanuga; Sergey Novoselov; Adrienne W. Paton; James C. Paton; Paul Chapple; Michael E. Cheetham

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1584. doi:

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Splice modulation therapy for a variety of ABCA4 mutations underlying Stargardt disease

CEP290 -associated LCA due to a photoreceptor cilium defect treated with an intravitreal antisense oligonucleotide results in improved vision

Modelling Autosomal Dominant Optic Atrophy using Induced Pluripotent Stem Cells

Generation of Induced Pluripotent Stem Cell Models of Dominant Retinitis Pigmentosa

Modelling RP2 retinitis pigmentosa using iPSC derived retinal organoids

Temporal resolution of alternative splicing in the developing human retina using 3D retinal organoids

Development of knock in (KI) mouse models of rhodopsin retinitis pigmentosa

The role of protein biogenesis, trafficking and ER homeostasis in retinitis pigmentosa

RNA toxicity induced by TCF4 CTG expansions is ameliorated by antisense therapeutics in a patient-derived cell model of Fuchs corneal endothelial dystrophy (FECD).

Probing the function of Arl3 in CRISPR modified cell models

Whole genome analysis of inherited retinal disease patients reveals mutations intractable to other detection strategies

Pharmacological stimulation of the cell stress responses as a therapy for rhodopsin RP

QR-110 Treatment for Leber’s Congenital Amaurosis Type 10: Restoration of CEP290 mRNA Levels and Ciliation in LCA10 iPSC-Derived Optic Cups

Mutations in the X-linked gene PRPS1 cause retinal degeneration in females

Improvement of P23H rod opsin traffic after metformin treatment accelerates the rate of retinal degeneration in P23H retinitis pigmentosa

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

Unpicking the UPR

A Targeted Next-Generation Sequencing Approach for Identification of the X-linked RP23 Gene

The Molecular Chaperone BiP Maintains Rod Opsin Mobility in the Endoplasmic Reticulum

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