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ARVO Annual Meeting Abstract June 2024

In vitro modelling of autosomal dominant Doyne honeycomb retinal dystrophy caused by the p.R345W EFEMP1 mutation and development of a gene-directed therapeutic

Olivia Farah Rezek; Beatriz Sanchez Pintado; Julio Cesar Corral Serrano; Thales A C De Guimarães; Michel Michaelides; Amanda-Jayne Francis Carr; Michael E Cheetham; Jacqueline van der Spuy

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1317.

ARVO Annual Meeting Abstract June 2024

Pathogenic OPA1 variants disrupt calcium homeostasis in iPSC-derived retinal ganglion cells increasing their susceptibility to cell death

Michael Whitehead; Kritarth Singh; Paul Sladen; Joshua Harvey; Giada Becchi; Michael Duchen; Patrick Yu-Wai-Man; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3820.

ARVO Annual Meeting Abstract June 2024

Inhibition of valosin-containing protein (VCP) prevents retinal degeneration in P23H transgenic rats, a model for autosomal dominant RP.

Blanca Arango-Gonzalez; Bowen Cao; Ana Cristina Almansa Garcia; Ellen Kilger; Angela Armento; Rosellina Guarascio; Kalliopi Ziaka; Kwan-Leong Hau; Hannah Poultney; Rowan Asfahani; Anne-Sophie Petremann Dumé; Sylvia Bolz; Michael E Cheetham; Merve Sen; Marius Ueffing

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4735.

ARVO Annual Meeting Abstract June 2024

A cell-based assay to identify small molecules that enhance the traffic of ABCA4 misfolding variants.

Davide Piccolo; Christina Zarouchlioti; James Bellingham; Paul E Sladen; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6063.

ARVO Annual Meeting Abstract June 2023

Molecular insights and treatment of IFT140 -mediated retinal dystrophy in iPSCs-derived retinal organoids and RPE

Julio Cesar Corral Serrano; Nele Schwarz; Karsten Boldt; Katarina Jovanovic; Daniele Ottaviani; Isabelle Perrault; marius ueffing; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):478.

ARVO Annual Meeting Abstract June 2023

Use of iPSC-derived retinal ganglion cells to investigate cell specific OPA1 RNA processing

Joshua Harvey; Neringa Jurkute; Gavin Arno; Patrick Yu-Wai-Man; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1896.

ARVO Annual Meeting Abstract June 2023

Investigation of OPN1LW and OPN1MW interchange haplotypes in retinal organoids from patients with blue cone monochromacy

Owen Fernando; Jessica C Gardner; Julio Cesar Corral Serrano; Michel Michaelides; Michael E Cheetham; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):5072.

ARVO Annual Meeting Abstract June 2023

Transcriptome analyses of mouse models of rhodopsin retinitis pigmentosa using RNA-seq.

Kalliopi Ziaka; Rosellina Guarascio; Kwan Hau; Rowan Asfahani; Davide Piccolo; Yumei Li; Rui Chen; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4882.

ARVO Annual Meeting Abstract June 2023

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; NIKOLAS PONTIKOS; Omar Abdul Rahman Mahroo; Michael E Cheetham; Andrew R Webster; Alison J Hardcastle; Michel Michaelides

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4638.

ARVO Annual Meeting Abstract June 2022

Combined AON-U7snRNA therapy decreases aberrant splicing caused by multiple deep-intronic ABCA4 variants in vitro

Nuria Suárez-Herrera; Iris B Riswick; Irene Vázquez-Domínguez; Lonneke Duijkers; Davide Piccolo; Michael E Cheetham; Alejandro Garanto; Rob WJ Collin

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):64 – A0037.

ARVO Annual Meeting Abstract June 2022

Investigation of ABCA4 missense variant plasma membrane trafficking in cell models.

Davide Piccolo; Christina Zarouchlioti; Jim Bellingham; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):672 – F0126.

ARVO Annual Meeting Abstract June 2022

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Kim C. Worley; Kristy Lee; Radha Ayyagari; Michael E Cheetham; Elfride De Baere; KERRY GOETZ; Robert K Koenekoop; Linyan Meng; MAXENCE NACHURY; Paul A Sieving; Lori S Sullivan; Christina Zeitz; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):624 – A0339.

ARVO Annual Meeting Abstract June 2022

Characterising the disease mechanisms of RP17 structural variants

Vasileios Toulis; Suzanne de Bruijn; Uira S Melo; Julio Corral-Serrano; Kwan Hau; Daniele Ottaviani; Steven J Fliesler; Susanne Roosing; Michael E Cheetham; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1595 – A0384.

ARVO Annual Meeting Abstract June 2022

QR-1011 corrects splicing in the Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Melita Kaltak; Petra de Bruijn; Sang-Eun Lee; Davide Piccolo; Kalyan Dulla; Rob WJ Collin; Michael E Cheetham; Gerard Platenburg; Jim Swildens

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3472.

ARVO Annual Meeting Abstract June 2022

In vitro modelling of autosomal dominant TGFBI corneal dystrophies and development of a targeted therapeutic approach

Olivia Farah Rezek; Beatriz Sanchez-Pintado; Michael E Cheetham; Alice E Davidson; Stephen Tuft; Alison J Hardcastle

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3844.

ARVO Annual Meeting Abstract June 2022

The role of light in the pathogenesis of rhodopsin retinitis pigmentosa

Rosellina Guarascio; Kwan Hau; Rowan Asfahani; Kalliopi Ziaka; Hannah Poultney; Dimitra Athanasiou; Monica Aguila; Yumei Li; Rui Chen; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3816.

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.

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.

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.

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.

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In vitro modelling of autosomal dominant Doyne honeycomb retinal dystrophy caused by the p.R345W EFEMP1 mutation and development of a gene-directed therapeutic

Pathogenic OPA1 variants disrupt calcium homeostasis in iPSC-derived retinal ganglion cells increasing their susceptibility to cell death

Inhibition of valosin-containing protein (VCP) prevents retinal degeneration in P23H transgenic rats, a model for autosomal dominant RP.

A cell-based assay to identify small molecules that enhance the traffic of ABCA4 misfolding variants.

Molecular insights and treatment of IFT140 -mediated retinal dystrophy in iPSCs-derived retinal organoids and RPE

Use of iPSC-derived retinal ganglion cells to investigate cell specific OPA1 RNA processing

Investigation of OPN1LW and OPN1MW interchange haplotypes in retinal organoids from patients with blue cone monochromacy

Transcriptome analyses of mouse models of rhodopsin retinitis pigmentosa using RNA-seq.

RP2- associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

Combined AON-U7snRNA therapy decreases aberrant splicing caused by multiple deep-intronic ABCA4 variants in vitro

Investigation of ABCA4 missense variant plasma membrane trafficking in cell models.

ClinGen Variant Curation for X-linked Inherited Retinal Disease Genes

Characterising the disease mechanisms of RP17 structural variants

QR-1011 corrects splicing in the Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

In vitro modelling of autosomal dominant TGFBI corneal dystrophies and development of a targeted therapeutic approach

The role of light in the pathogenesis of rhodopsin retinitis pigmentosa

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

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

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