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Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Am J Hum Genet. 2021 Feb 4;108(2):295-308. doi: 10.1016/j.ajhg.2021.01.006. Epub 2021 Jan 27.
Am J Hum Genet. 2021.
PMID: 33508235
Free PMC article.
Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy-lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.
Guarascio R, Salih D, Yasvoina M, Edwards FA, Cheetham ME, van der Spuy J.
Guarascio R, et al.
Hum Mol Genet. 2020 Jan 1;29(1):80-96. doi: 10.1093/hmg/ddz255.
Hum Mol Genet. 2020.
PMID: 31691796
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Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.
Lane A, Jovanovic K, Shortall C, Ottaviani D, Panes AB, Schwarz N, Guarascio R, Hayes MJ, Palfi A, Chadderton N, Farrar GJ, Hardcastle AJ, Cheetham ME.
Lane A, et al. Among authors: guarascio r.
Stem Cell Reports. 2020 Jul 14;15(1):67-79. doi: 10.1016/j.stemcr.2020.05.007. Epub 2020 Jun 11.
Stem Cell Reports. 2020.
PMID: 32531192
Free PMC article.
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Eye on a Dish Models to Evaluate Splicing Modulation.
Hau KL, Lane A, Guarascio R, Cheetham ME.
Hau KL, et al. Among authors: guarascio r.
Methods Mol Biol. 2022;2434:245-255. doi: 10.1007/978-1-0716-2010-6_16.
Methods Mol Biol. 2022.
PMID: 35213022
Free PMC article.
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Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
Sladen PE, Jovanovic K, Guarascio R, Ottaviani D, Salsbury G, Novoselova T, Chapple JP, Yu-Wai-Man P, Cheetham ME.
Sladen PE, et al. Among authors: guarascio r.
Hum Mol Genet. 2022 Oct 10;31(20):3478-3493. doi: 10.1093/hmg/ddac128.
Hum Mol Genet. 2022.
PMID: 35652445
Free PMC article.
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A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Piccolo D, Zarouchlioti C, Bellingham J, Guarascio R, Ziaka K, Molday RS, Cheetham ME.
Piccolo D, et al. Among authors: guarascio r.
Int J Mol Sci. 2024 Apr 20;25(8):4521. doi: 10.3390/ijms25084521.
Int J Mol Sci. 2024.
PMID: 38674104
Free PMC article.
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Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity.
Kurzawa-Akanbi M, Tzoumas N, Corral-Serrano JC, Guarascio R, Steel DH, Cheetham ME, Armstrong L, Lako M.
Kurzawa-Akanbi M, et al. Among authors: guarascio r.
Prog Retin Eye Res. 2024 May;100:101248. doi: 10.1016/j.preteyeres.2024.101248. Epub 2024 Feb 16.
Prog Retin Eye Res. 2024.
PMID: 38369182
Free article.
Review.
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