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Letter to the Editor

Response: ‘letter to the editor: emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa’

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Pages 449-450 | Received 15 Aug 2022, Accepted 10 Nov 2022, Published online: 23 Dec 2022

References

  • Georgiadis A, Smith AJ, Michaelides M, et al. Letter to the editor: “Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa”. Expert Opin Emerg Drugs. 2022;27(4):443-445. DOI:10.1080/14728214.2022.2152202
  • Martinez-Fernandez de la Camara C, Cehajic-Kapetanovic J, MacLaren RE. Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa. Expert Opin Emerg Drugs. 2022;27(4):429-441. DOI:10.1080/14728214.2022.2152003
  • Pawlyk BS, Bulgakov OV, Sun X, et al. Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa. Gene Ther. 2016;23(2):196–204.
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  • Sergouniotis PI, Chakarova C, Murphy C, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014;94(5):760–769.
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  • Cehajic-Kapetanovic J, Martinez-Fernandez de la Camara C, Birtel J, et al. Impaired glutamylation of RPGRORF15 underlies the cone dominated phenotype associated with truncating distal ORF15 variants. Proc Natl Acad Sci U S A. 2022. In press.
  • Sun X, Park JH, Gumerson J, et al. Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proc Natl Acad Sci U S A. 2016;113(21):E2925–2934.
  • Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, et al. Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Nat Med. 2020;26(3):354–359.

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