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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Dulla K, Aguila M, Lane A, Jovanovic K, Parfitt DA, Schulkens I, Chan HL, Schmidt I, Beumer W, Vorthoren L, Collin RWJ, Garanto A, Duijkers L, Brugulat-Panes A, Semo M, Vugler AA, Biasutto P, Adamson P, Cheetham ME. Dulla K, et al. Among authors: cheetham me. Mol Ther Nucleic Acids. 2018 Sep 7;12:730-740. doi: 10.1016/j.omtn.2018.07.010. Epub 2018 Jul 23. Mol Ther Nucleic Acids. 2018. PMID: 30114557 Free PMC article.
A dual role for EDEM1 in the processing of rod opsin.
Kosmaoglou M, Kanuga N, Aguilà M, Garriga P, Cheetham ME. Kosmaoglou M, et al. Among authors: cheetham me. J Cell Sci. 2009 Dec 15;122(Pt 24):4465-72. doi: 10.1242/jcs.055228. Epub 2009 Nov 24. J Cell Sci. 2009. PMID: 19934218 Free PMC article.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Among authors: cheetham me. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.
The cell stress machinery and retinal degeneration.
Athanasiou D, Aguilà M, Bevilacqua D, Novoselov SS, Parfitt DA, Cheetham ME. Athanasiou D, et al. Among authors: cheetham me. FEBS Lett. 2013 Jun 27;587(13):2008-17. doi: 10.1016/j.febslet.2013.05.020. Epub 2013 May 15. FEBS Lett. 2013. PMID: 23684651 Free PMC article. Review.
Hsp90 inhibition protects against inherited retinal degeneration.
Aguilà M, Bevilacqua D, McCulley C, Schwarz N, Athanasiou D, Kanuga N, Novoselov SS, Lange CA, Ali RR, Bainbridge JW, Gias C, Coffey PJ, Garriga P, Cheetham ME. Aguilà M, et al. Among authors: cheetham me. Hum Mol Genet. 2014 Apr 15;23(8):2164-75. doi: 10.1093/hmg/ddt613. Epub 2013 Dec 2. Hum Mol Genet. 2014. PMID: 24301679 Free PMC article.
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.
Schwarz N, Carr AJ, Lane A, Moeller F, Chen LL, Aguilà M, Nommiste B, Muthiah MN, Kanuga N, Wolfrum U, Nagel-Wolfrum K, da Cruz L, Coffey PJ, Cheetham ME, Hardcastle AJ. Schwarz N, et al. Among authors: cheetham me. Hum Mol Genet. 2015 Feb 15;24(4):972-86. doi: 10.1093/hmg/ddu509. Epub 2014 Oct 6. Hum Mol Genet. 2015. PMID: 25292197 Free PMC article.
187 results