In vitro gene delivery in retinal pigment epithelium cells by plasmid DNA-wrapped gold nanoparticles S Trigueros, E B. Domènech, V Toulis, G Marfany Genes 10 (4), 289, 2019 | 40 | 2019 |
The deubiquitinating enzyme ataxin-3 regulates ciliogenesis and phagocytosis in the retina V Toulis, S García-Monclús, C de la Peña-Ramírez, R Arenas-Galnares, ... Cell reports 33 (6), 2020 | 21 | 2020 |
Combining zebrafish and mouse models to test the function of deubiquitinating enzyme (Dubs) genes in development: role of USP45 in the retina V Toulis, A Garanto, G Marfany Proteostasis: Methods and Protocols, 85-101, 2016 | 15 | 2016 |
On the wrong track: alterations of ciliary transport in inherited retinal dystrophies L Sánchez-Bellver, V Toulis, G Marfany Frontiers in Cell and Developmental Biology 9, 623734, 2021 | 13 | 2021 |
Increasing the genetic diagnosis yield in inherited retinal dystrophies: assigning pathogenicity to novel non-canonical splice site variants V Toulis, V Cortés-González, M de Castro-Miró, J Ferraz Sallum, ... Genes 11 (4), 378, 2020 | 11 | 2020 |
Expression of deubiquitinating enzyme genes in the developing mammal retina M Esquerdo-Barragán, MJ Brooks, V Toulis, A Swaroop, G Marfany Molecular Vision 25, 800, 2019 | 9 | 2019 |
Expression atlas of the deubiquitinating enzymes in the adult mouse retina, their evolutionary diversification and phenotypic roles M Esquerdo, X Grau-Bove, A Garanto, V Toulis, S Garcia-Monclus, E Millo, ... PLoS One 11 (3), e0150364, 2016 | 9 | 2016 |
By the tips of your cilia: ciliogenesis in the retina and the ubiquitin-proteasome system V Toulis, G Marfany Proteostasis and Disease: From Basic Mechanisms to Clinics, 303-310, 2020 | 6 | 2020 |
Altered retinal structure and function in Spinocerebellar ataxia type 3 V Toulis, R Casaroli-Marano, A Camós-Carreras, M Figueras-Roca, ... Neurobiology of Disease 170, 105774, 2022 | 5 | 2022 |
RPGeNet v2.0: expanding the universe of retinal disease gene interactions network R Arenas-Galnares, S Castillo-Lara, V Toulis, D Boloc, ... Database 2019, baz120, 2019 | 2 | 2019 |
Induced pluripotent stem cells and genome-editing tools in determining gene function and therapy for inherited retinal disorders D Benati, A Leung, P Perdigao, V Toulis, J van der Spuy, A Recchia International Journal of Molecular Sciences 23 (23), 15276, 2022 | 1 | 2022 |
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy L Dudakova, L Noskova, S Kmoch, M Filipec, A Filous, AE Davidson, ... Human Mutation 2024, 2024 | | 2024 |
P03. 001. A USP48 as a regulatory gene involved in retinal ciliopathies L Sanchez-Bellver, V Toulis, ME Cheetham, AJ Hardcastle, G Marfany EUROPEAN JOURNAL OF HUMAN GENETICS 32, 371-371, 2024 | | 2024 |
Characterising the disease mechanisms of RP17 structural variants V Toulis, S De Bruijn, US Melo, J Corral-Serrano, K Hau, D Ottaviani, ... Investigative Ophthalmology & Visual Science 63 (7), 1595–A0384-1595–A0384, 2022 | | 2022 |
Zebrafish and mouse models for studiying deubiquitinating enxyme genes as candidates for retinal dystrophies V Toulis Universitat de Barcelona, 2020 | | 2020 |
Gene-edited mouse models and human retinal organoids to study the function of CERKL, NR2E3 and ATXN3 genes in inherited retinal dystrophies G Marfany, V Toulis, EB Domènech, I Aísa-Marín, S Mirra, MCP da Costa, ... Investigative Ophthalmology & Visual Science 60 (9), 1760-1760, 2019 | | 2019 |
ATXN3 in retina: from ataxia to candidate gene for retinal dystrophies V Toulis, M Costa, G Marfany EUROPEAN JOURNAL OF HUMAN GENETICS 27, 44-44, 2019 | | 2019 |
The deubiquitinating enzyme Ataxin-3 is relevant for retina formation and differentiation in mouse and zebrafish G Marfany, V Toulis, M do Carmo Costa Investigative Ophthalmology & Visual Science 58 (8), 599-599, 2017 | | 2017 |
Expression atlas of the Deubiquitinating enzymes in the adult mouse retina, their evolutionary diversification and phenotypic roles M Esquerdo Barragán, FX Grau Bové, A Garanto, V Toulis, ... PLoS One, 2016, vol. 11, num. 3, p. e0150364-e0150364, 2016 | | 2016 |