Preface of Special Issue "Molecular Therapies for Inherited Retinal Diseases"

por Collin, Rob W.J., Garanto, Alejandro
Publicado 2020

Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics

por Zhou, Haiyan, Arechavala-Gomeza, Virginia, Garanto, Alejandro
Publicado 2023

Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness

por Garanto, Alejandro, Duijkers, Lonneke, Collin, Rob W. J.
Publicado 2015

Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress

por Tuson, Miquel, Garanto, Alejandro, Gonzàlez-Duarte, Roser, Marfany, Gemma
Publicado 2009

Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges

por Vázquez-Domínguez, Irene, Garanto, Alejandro, Collin, Rob W. J.
Publicado 2019

mRNA expression analysis of the SUMO pathway genes in the adult mouse retina

por Abad-Morales, Víctor, Domènech, Elena B., Garanto, Alejandro, Marfany, Gemma
Publicado 2015

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

por Garanto, Alejandro, Duijkers, Lonneke, Tomkiewicz, Tomasz Z., Collin, Rob W. J.
Publicado 2019

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

por Tomkiewicz, Tomasz Z., Suárez-Herrera, Nuria, Cremers, Frans P. M., Collin, Rob W. J., Garanto, Alejandro
Publicado 2021

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease

por Tomkiewicz, Tomasz Z., Nieuwenhuis, Sara E., Cremers, Frans P. M., Garanto, Alejandro, Collin, Rob W. J.
Publicado 2022

A look into retinal organoids: methods, analytical techniques, and applications

por Afanasyeva, Tess A. V., Corral-Serrano, Julio C., Garanto, Alejandro, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W. J.
Publicado 2021

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

por Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Publicado 2013

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

por Vázquez-Domínguez, Irene, Li, Catherina H. Z., Fadaie, Zeinab, Haer-Wigman, Lonneke, Cremers, Frans P. M., Garanto, Alejandro, Hoyng, Carel B., Roosing, Susanne
Publicado 2022

Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

por Aartsma-Rus, Annemieke, Garanto, Alejandro, van Roon-Mom, Willeke, McConnell, Erin M., Suslovitch, Victoria, Yan, Winston X., Watts, Jonathan K., Yu, Timothy W.
Publicado 2023

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

por Faber, Siebren, Mercey, Olivier, Junger, Katrin, Garanto, Alejandro, May-Simera, Helen, Ueffing, Marius, Collin, Rob W.J., Boldt, Karsten, Guichard, Paul, Hamel, Virginie, Roepman, Ronald
Publicado 2023

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

por Duijkers, Lonneke, van den Born, L. Ingeborgh, Neidhardt, John, Bax, Nathalie M., Pierrache, Laurence H. M., Klevering, B. Jeroen, Collin, Rob W. J., Garanto, Alejandro
Publicado 2018

Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles

por Esquerdo, Mariona, Grau-Bové, Xavier, Garanto, Alejandro, Toulis, Vasileios, Garcia-Monclús, Sílvia, Millo, Erica, López-Iniesta, Ma José, Abad-Morales, Víctor, Ruiz-Trillo, Iñaki, Marfany, Gemma
Publicado 2016

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency

por Khan, Mubeen, S. Cornelis, Stéphanie, Sangermano, Riccardo, J.M. Post, Iris, Janssen Groesbeek, Amber, Amsu, Jan, Gilissen, Christian, Garanto, Alejandro, W.J. Collin, Rob, P.M. Cremers, Frans
Publicado 2020

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

por Karjosukarso, Dyah W., Ali, Zaheer, Peters, Theo A., Zhang, Jia Qi Cheng, Hoogendoorn, Anita D M., Garanto, Alejandro, van Wijk, Erwin, Jensen, Lasse D., Collin, Rob W J.
Publicado 2020

The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina

por Toulis, Vasileios, García-Monclús, Sílvia, de la Peña-Ramírez, Carlos, Arenas-Galnares, Rodrigo, Abril, Josep F., Todi, Sokol V., Khan, Naheed, Garanto, Alejandro, do Carmo Costa, Maria, Marfany, Gemma
Publicado 2020

Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution

por van Strien, Joeri, Evers, Felix, Lutikurti, Madhurya, Berendsen, Stijn L., Garanto, Alejandro, van Gemert, Geert-Jan, Cabrera-Orefice, Alfredo, Rodenburg, Richard J., Brandt, Ulrich, Kooij, Taco W. A., Huynen, Martijn A.
Publicado 2023