Detalhe da pesquisa
1.
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
Hum Mol Genet
; 31(20): 3478-3493, 2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652445
2.
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Am J Hum Genet
; 108(2): 295-308, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508235
3.
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Int J Mol Sci
; 25(8)2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674104
4.
Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy-lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.
Hum Mol Genet
; 29(1): 80-96, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691796
5.
Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity.
Prog Retin Eye Res
; 100: 101248, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38369182
6.
Eye on a Dish Models to Evaluate Splicing Modulation.
Methods Mol Biol
; 2434: 245-255, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35213022
7.
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.
Stem Cell Reports
; 15(1): 67-79, 2020 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531192