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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

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

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:

ARVO Annual Meeting Abstract March 2012

The Hsp90 Inhibitor 17-AAG Prevents Aberrant Endocytosis Mediated By The Rhodopsin Retinitis Pigmentosa R135L Mutation

Monica Aguila; Caroline McCulley; Nele Schwarz; Pere Garriga; Michael E. Cheetham

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1623. doi:

Retina May 2011

Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 ( RP2 ) Gene Results in Retinal Degeneration

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Xinhua Shu; Zhiqiang Zeng; Philippe Gautier; Alan Lennon; Milica Gakovic; Michael E. Cheetham; E. Elizabeth Patton; Alan F. Wright
TAGS: phenotype, genes, retinal degeneration, retinitis pigmentosa, zebrafish
Invest. Ophthalmol. Vis. Sci.. 2011; 52(6):2960-2966. doi: 10.1167/iovs.10-6800

Biochemistry and Molecular Biology July 2008

The Leber Congenital Amaurosis Protein AIPL1 Functions as Part of a Chaperone Heterocomplex

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Juan Hidalgo-de-Quintana; R. Jane Evans; Michael E. Cheetham; Jacqueline van der Spuy
TAGS: yeast one/two-hybrid system, heat-shock proteins 70, hsp90 heat-shock proteins, molecular chaperones, yeasts, proteins, leber's amaurosis
Invest. Ophthalmol. Vis. Sci.. 2008; 49(7):2878-2887. doi: 10.1167/iovs.07-1576

Retina December 2007

An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy

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Robert H. Henderson; Naushin Waseem; Rowan Searle; Jacqueline van der Spuy; Isabelle Russell-Eggitt; Shomi S. Bhattacharya; Dorothy A. Thompson; Graham E. Holder; Michael E. Cheetham; Andrew R. Webster; Anthony T. Moore
TAGS: alleles, mutation, cohort studies, dna, genes, heterozygote, single nucleotide polymorphism, technology, leber's amaurosis, genotype determination, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5684-5689. doi: 10.1167/iovs.07-0207

Includes: Supplemental Content

Biochemistry and Molecular Biology December 2007

Novel Retinal and Cone Photoreceptor Transcripts Revealed by Human Macular Expression Profiling

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Daniel M. Hornan; Stuart N. Peirson; Alison J. Hardcastle; Robert S. Molday; Michael E. Cheetham; Andrew R. Webster
TAGS: polymerase chain reaction, retinal cone, gene expression profiling, genes, macula lutea, opsin, proteins, retina, macula densa, hdac9 gene, molecular profiling
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5388-5396. doi: 10.1167/iovs.07-0355

Includes: Supplemental Content

Biochemistry and Molecular Biology June 2005

Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families

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Neil D. Ebenezer; Michel Michaelides; Sharon A. Jenkins; Isabelle Audo; Andrew R. Webster; Michael E. Cheetham; Andrew Stockman; Eamonn R. Maher; John R. Ainsworth; John R. Yates; Keith Bradshaw; Graham E. Holder; Anthony T. Moore; Alison J. Hardcastle
TAGS: mutation, retinal cone, family, retinitis pigmentosa, x-linked inheritance, progressive cone-rod dystrophy
Invest. Ophthalmol. Vis. Sci.. 2005; 46(6):1891-1898. doi: 10.1167/iovs.04-1482

Anatomy and Pathology/Oncology May 2004

Modulation of Sub-RPE Deposits In Vitro: A Potential Model for Age-Related Macular Degeneration

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Sepideh Amin; N. H. Victor Chong; Tracey A. Bailey; Jinjun Zhang; Carlo Knupp; Michael E. Cheetham; John Greenwood; Philip J. Luthert
TAGS: tumor necrosis factors, albumins, gelatinase a, tissue membrane, tissue culture, age-related macular degeneration, proteins
Invest. Ophthalmol. Vis. Sci.. 2004; 45(5):1281-1288. doi: 10.1167/iovs.03-0671

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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

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

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

The Hsp90 Inhibitor 17-AAG Prevents Aberrant Endocytosis Mediated By The Rhodopsin Retinitis Pigmentosa R135L Mutation

Knockdown of the Zebrafish Ortholog of the Retinitis Pigmentosa 2 ( RP2 ) Gene Results in Retinal Degeneration

The Leber Congenital Amaurosis Protein AIPL1 Functions as Part of a Chaperone Heterocomplex

An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy

Novel Retinal and Cone Photoreceptor Transcripts Revealed by Human Macular Expression Profiling

Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families

Modulation of Sub-RPE Deposits In Vitro: A Potential Model for Age-Related Macular Degeneration

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