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ARVO Annual Meeting Abstract June 2022

Antisense oligonucleotide-based correction of the splicing defect caused by the c.769-784C>T variant in ABCA4.

Tomasz Zbigniew Tomkiewicz; Sara Nieuwenhuis; Frans P Cremers; Alejandro Garanto; Rob WJ Collin

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):71 – A0044.

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

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

Susanne Roosing; Irene Vázquez-Domínguez; Catherina H.Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P Cremers; Carel C B Hoyng; Alejandro Garanto

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1600 – A0389.

ARVO Annual Meeting Abstract June 2022

Antisense oligonucleotide-based rescue of complex splicing defects in ABCA4

Zelia Corradi; Laura de Rooij; Rebekkah J Hitti-Malin; Alejandro Garanto; Rob WJ Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3842.

Genetics May 2022

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

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Irene Vázquez-Domínguez; Catherina H. Z. Li; Zeinab Fadaie; Lonneke Haer-Wigman; Frans P. M. Cremers; Alejandro Garanto; Carel B. Hoyng; Susanne Roosing
TAGS: adult, alleles, persistent postconcussive syndrome, postpolypectomy coagulation syndrome, vitelliform dystrophy, exons, rna splicing, genes
Invest. Ophthalmol. Vis. Sci.. 2022; 63(5):27. https://doi.org/10.1167/iovs.63.5.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Dissecting the disease mechanism of Leber congenital amaurosis type 5 (LCA5) using retinal affinity proteomics

Siebren Faber; Stef Letteboer; Alejandro Garanto; Katrin Junger; Tina Beyer; Jean Bennett; Marius Ueffing; Rob W.J. Collin; Karsten Boldt; Ronald Roepman

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3077.

Biochemistry and Molecular Biology February 2020

Modeling ZNF408 -Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature

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Dyah W. Karjosukarso; Zaheer Ali; Theo A. Peters; Jia Qi Cheng Zhang; Anita D M. Hoogendoorn; Alejandro Garanto; Erwin van Wijk; Lasse D. Jensen; Rob W J. Collin
TAGS: familial exudative vitreoretinopathies, retinal vasculature, zebrafish, retinal vessels
Invest. Ophthalmol. Vis. Sci.. 2020; 61(2):39. https://doi.org/10.1167/iovs.61.2.39

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

CERKL isoforms are differentially expressed in retinal cells

Roser Gonzalez-Duarte; Rosa Andrés; Elena B. Domenech; Alejandro Garanto; Mariona Esquerdo; Florentina Sava; Muna I Naash; Gemma Marfany

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):596.

ARVO Annual Meeting Abstract June 2017

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

Silvia Albert; Riccardo Sangermano; Alejandro Garanto; Miriam Bauwens; Ana Fakin; Ingeborgh Van Den Born; Andrew R Webster; Elfride De Baere; Heidi Stoehr; Bernhard HF Weber; Carel C B Hoyng; Rob W J Collin; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5580.

ARVO Annual Meeting Abstract June 2017

Size matters: ABCA4 midigenes facilitate accurate RNA splicing analysis of non-canonical splice site variants in Stargardt disease

Riccardo Sangermano; Mubeen Khan; Valerie Richelle; Stephanie Cornelis; Alejandro Garanto; Rob W J Collin; Silvia Albert; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5581.

ARVO Annual Meeting Abstract September 2016

Antisense oligonucleotide delivery is an effective therapeutic approach for CEP290 -associated LCA

Alejandro Garanto; Daniel C Chung; Lonneke Duijkers; Julio Cesar Corral Serrano; Muriël Messchaert; Ru Xiao; Jean Bennett; Luk H Vandenberghe; Rob Collin

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

ARVO Annual Meeting Abstract September 2016

Identification and validation of intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

Silvia Albert; Riccardo Sangermano; Nathalie Bax; Miriam Bauwens; Ingeborgh Van Den Born; Elfride De Baere; Alejandro Garanto; Rob Collin; Carel C B Hoyng; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6590.

ARVO Annual Meeting Abstract April 2014

AAV-mediated antisense oligonucleotide-based therapy for CEP290 -associated LCA

Alejandro Garanto; Lonneke Duijkers; Ru Xiao; Luk H Vandenberghe; Rob W J Collin

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3312.

ARVO Annual Meeting Abstract June 2013

Antisense oligonucleotide-based therapy for CEP290 -associated LCA

Alejandro Garanto; Frans Cremers; Rob Collin

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):2737.

ARVO Annual Meeting Abstract March 2012

Expression Map Of Sumo And Ubiquitin Pathway Enzymes In The Mouse Retina

Gemma Marfany; Mariona Esquerdo; Víctor Abad; Erica Millo; Silvia Garcia-Monclus; Alejandro Garanto

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1617.

ARVO Annual Meeting Abstract March 2012

Cerkl Knockdown Murine Model Shows Mild Affectation Of The Retinal Ganglion Cell Layer

Roser Gonzalez-Duarte; Alejandro Garanto; Javier Vicente-Tejedor; Marina Riera; Pedro de la Villa; Roman Blanco; Gemma Marfany

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1620.

Biochemistry and Molecular Biology July 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

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Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Florentina Sava; Josep F. Abril; Gemma Marfany; Roser Gonzàlez-Duarte
TAGS: exons, genes, mice, protein isoforms, retina, retinitis pigmentosa, transcription, genetic, body tissue, genome, proteins
Invest. Ophthalmol. Vis. Sci.. 2011; 52(8):5202-5214. https://doi.org/10.1167/iovs.10-7101

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

Gemma Marfany; Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Josep F. Abril; Roser Gonzalez-Duarte

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5404.

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Antisense oligonucleotide-based correction of the splicing defect caused by the c.769-784C>T variant in ABCA4.

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

Identification of a complex allele in IMPG2 as a cause of adult onset vitelliform macular dystrophy

Antisense oligonucleotide-based rescue of complex splicing defects in ABCA4

Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy

Dissecting the disease mechanism of Leber congenital amaurosis type 5 (LCA5) using retinal affinity proteomics

Modeling ZNF408 -Associated FEVR in Zebrafish Results in Abnormal Retinal Vasculature

CERKL isoforms are differentially expressed in retinal cells

Identification, RNA splice defect assessment and AON correction of non-coding variants of ABCA4 in Stargardt disease

Size matters: ABCA4 midigenes facilitate accurate RNA splicing analysis of non-canonical splice site variants in Stargardt disease

Antisense oligonucleotide delivery is an effective therapeutic approach for CEP290 -associated LCA

Identification and validation of intronic ABCA4 mutations in Stargardt patients by using induced pluripotent stem cell-derived photoreceptor progenitor cells

AAV-mediated antisense oligonucleotide-based therapy for CEP290 -associated LCA

Antisense oligonucleotide-based therapy for CEP290 -associated LCA

Expression Map Of Sumo And Ubiquitin Pathway Enzymes In The Mouse Retina

Cerkl Knockdown Murine Model Shows Mild Affectation Of The Retinal Ganglion Cell Layer

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

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