Page 80 - GPD-3-3

Gene & Protein in Disease Gene therapy progress for DEB

type VII collagen, and promote wound healing. Molecular doi: 10.1016/j.omtm.2023.101134
Therapy. 2007;15(3):628-635.
68. Bonafont J, Mencía Á, García M, et al. Clinically relevant
doi: 10.1038/sj.mt.6300041 correction of recessive dystrophic epidermolysis bullosa by
dual sgRNA CRISPR/Cas9-mediated gene editing. Mol Ther.
58. Woodley DT, Keene DR, Atha T, et al. Intradermal injection
of lentiviral vectors corrects regenerated human dystrophic 2019;27(5):986-998.
epidermolysis bullosa skin tissue in vivo. Mol Ther doi: 10.1016/j.ymthe.2019.03.007
2004;10(2):318-326.
69. Du Rand A, Hunt J, Samson C, et al. Highly efficient CRISPR/
doi: 10.1016/j.ymthe.2004.05.016 Cas9‐mediated exon skipping for recessive dystrophic
59. Payne AS. Topical gene therapy for epidermolysis bullosa. epidermolysis bullosa. Bioeng Transl Med. 2024;9:e10640.
N Engl J Med. 2022;387(24):2281-2284. doi: 10.1002/btm2.10640
doi: 10.1056/NEJMe2213203 70. Takashima S, Shinkuma S, Fujita Y, et al. Efficient gene
60. Bulcha JT, Wang Y, Ma H, Tai PWL, Gao G. Viral vector reframing therapy for recessive dystrophic epidermolysis
platforms within the gene therapy landscape. Signal bullosa with CRISPR/Cas9. J Invest Dermatol.
Transduct Target Ther. 2021;6(1):53. 2019;139(8):1711-1721.e4.
doi: 10.1038/s41392-021-00487-6 doi: 10.1016/j.jid.2019.02.015
61. Tockner B, Kocher T, Hainzl S, et al. Construction and 71. Osborn MJ, Starker CG, McElroy AN, et al. TALEN-
validation of an RNA trans-splicing molecule suitable to based gene correction for epidermolysis bullosa. Mol Ther.
repair a large number of COL7A1 mutations. Gene Ther. 2013;21(6):1151-1159.
2016;23(11):775-784. doi: 10.1038/mt.2013.56
doi: 10.1038/gt.2016.57 72. Izmiryan A, Danos O, Hovnanian A. Meganuclease-

62. Peking P, Koller U, Duarte B, et al. An RNA-targeted therapy mediated COL7A1 gene correction for recessive dystrophic
for dystrophic epidermolysis bullosa. Nucleic Acids Res. epidermolysis bullosa. J Invest Dermatol. 2016;136(4):
2017;45(17):10259-10269. 872-875.
doi: 10.1093/nar/gkx669 doi: 10.1016/j.jid.2015.11.028
63. Peking P, Koller U, Hainzl S, et al. A gene gun-mediated 73. Itoh M, Kawagoe S, Tamai K, Nakagawa H, Asahina A,
nonviral RNA trans-splicing strategy for Col7a1 repair. Mol Okano HJ. Footprint-free gene mutation correction
Ther Nucleic Acids. 2016;5:e287. in Induced Pluripotent Stem Cell (iPSC) derived from
Recessive Dystrophic Epidermolysis Bullosa (RDEB)
doi: 10.1038/mtna.2016.3 using the CRISPR/Cas9 and piggyBac transposon system.
64. Bremer J, van der Heijden EH, Eichhorn DS, et al. Natural J Dermatol Sci. 2020;98(3):163-172.
exon skipping sets the stage for exon skipping as therapy for doi: 10.1016/j.jdermsci.2020.04.004
dystrophic epidermolysis bullosa. Mol Ther Nucleic Acids.
2019;18:465-475. 74. Kocher T, Bischof J, Haas SA, et al. A non-viral and selection-
free COL7A1 HDR approach with improved safety profile
doi: 10.1016/j.omtn.2019.09.009
for dystrophic epidermolysis bullosa. Mol Ther Nucleic
65. Bornert O, Kühl T, Bremer J, van den Akker PC, Acids. 2021;25:237-250.
Pasmooij AM, Nyström A. Analysis of the functional doi: 10.1016/j.omtn.2021.05.015
consequences of targeted exon deletion in COL7A1 reveals
prospects for dystrophic epidermolysis bullosa therapy. Mol 75. Bonafont J, Mencía A, Chacón-Solano E, et al. Correction
Ther. 2016;24(7):1302-1311. of recessive dystrophic epidermolysis bullosa by homology-
directed repair-mediated genome editing. Mol Ther.
doi: 10.1038/mt.2016.92
2021;29(6):2008-2018.
66. Mencía Á, Chamorro C, Bonafont J, et al. Deletion of a doi: 10.1016/j.ymthe.2021.02.019
pathogenic mutation-containing exon of COL7A1 allows
clonal gene editing correction of RDEB Patient epidermal 76. Berthault C, Gaucher S, Gouin O, et al. Highly efficient
stem cells. Mol Ther Nucleic Acids. 2018;11:68-78. ex vivo correction of COL7A1 through ribonucleoprotein-
based CRISPR/Cas9 and homology-directed repair to
doi: 10.1016/j.omtn.2018.01.009
treat recessive dystrophic epidermolysis bullosa. J Invest
67. Wang X, Wang X, Li Y, et al. CRISPR-Cas9-based non- Dermatol. 2024;144(6):1322-1333.e13.
viral gene editing therapy for topical treatment of recessive
dystrophic epidermolysis bullosa. Mol Ther Methods Clin doi: 10.1016/j.jid.2023.10.035
Dev. 2023;31:101134. 77. Rees HA, Liu DR. Base editing: Precision chemistry on the

Volume 3 Issue 3 (2024) 11 doi: 10.36922/gpd.4047