Page 79 - GPD-3-3

Gene & Protein in Disease Gene therapy progress for DEB

restores Type VII collagen expression and anchoring fibril 47. Bischof J, Hierl M, Koller U. Emerging gene therapeutics
formation in an in vivo RDEB model. J Invest Dermatol. for epidermolysis bullosa under development. IJMS.
2016;136(12):2387-2395. 2024;25(4):2243.
doi: 10.1016/j.jid.2016.07.029 doi: 10.3390/ijms25042243
38. Bornert O, Hogervorst M, Nauroy P, et al. QR-313, an 48. Roth TL, Marson A. Genetic disease and therapy. Annu Rev
antisense oligonucleotide, shows therapeutic efficacy Pathol. 2021;16(1):145-166.
for treatment of dominant and recessive dystrophic doi: 10.1146/annurev-pathmechdis-012419-032626
epidermolysis bullosa: A preclinical study. J Invest Dermatol.
2021;141(4):883-893.e6. 49. Chen M, O’Toole EA, Muellenhoff M, Medina E, Kasahara N,
Woodley DT. Development and characterization of a
doi: 10.1016/j.jid.2020.08.018 recombinant truncated Type VII collagen “minigene”.
39. García M, Bonafont J, Martínez-Palacios J, et al. Preclinical Implication for gene therapy of dystrophic epidermolysis
model for phenotypic correction of dystrophic epidermolysis bullosa. J Biol Chem. 2000;275(32):24429-24435.
bullosa by in vivo CRISPR-Cas9 delivery using adenoviral doi: 10.1074/jbc.M003440200
vectors. Mol Ther Methods Clin Dev. 2022;27:96-108.
50. Ortiz-Urda S, Thyagarajan B, Keene DR, et al. Stable
doi: 10.1016/j.omtm.2022.09.005 nonviral genetic correction of inherited human skin disease.
40. Wu W, Lu Z, Li F, et al. Efficient in vivo gene editing using Nat Med. 2002;8(10):1166-1170.
ribonucleoproteins in skin stem cells of recessive dystrophic doi: 10.1038/nm766
epidermolysis bullosa mouse model. Proc Natl Acad Sci
USA. 2017;114(7):1660-1665. 51. Gurevich I, Agarwal P, Zhang P, et al. In vivo topical gene
therapy for recessive dystrophic epidermolysis bullosa:
doi: 10.1073/pnas.1614775114 A phase 1 and 2 trial. Nat Med. 2022;28(4):780-788.
41. Kocher T, March OP, Bischof J, et al. Predictable CRISPR/ doi: 10.1038/s41591-022-01737-y
Cas9-mediated COL7A1 reframing for dystrophic
epidermolysis bullosa. J Invest Dermatol. 2020;140(10):1985- 52. Wang X, Alshehri F, Manzanares D, et al. Development of
1993.e5. minicircle vectors encoding COL7A1 gene with human
promoters for non-viral gene therapy for recessive
doi: 10.1016/j.jid.2020.02.012 dystrophic epidermolysis bullosa. IJMS. 2021;22(23):12774.
42. Kocher T, Wagner RN, Klausegger A, et al. Improved double- doi: 10.3390/ijms222312774
nicking strategies for COL7A1-editing by homologous
recombination. Mol Ther Nucleic Acids. 2019;18:496-507. 53. Zeng M, Xu Q, Zhou D, et al. Highly branched poly(β-
amino ester)s for gene delivery in hereditary skin diseases.
doi: 10.1016/j.omtn.2019.09.011 Adv Drug Deliv Rev. 2021;176:113842.
43. Jacków J, Guo Z, Hansen C, et al. CRISPR/Cas9-based doi: 10.1016/j.addr.2021.113842
targeted genome editing for correction of recessive
dystrophic epidermolysis bullosa using iPS cells. Proc Natl 54. Zeng M, Zhou D, Alshehri F, et al. Manipulation of
Acad Sci USA. 2019;116(52):26846-26852. Transgene expression in fibroblast cells by a multifunctional
linear-branched hybrid poly(β-Amino Ester) synthesized
doi: 10.1073/pnas.1907081116 through an oligomer combination approach. Nano Lett.
44. Osborn MJ, Newby GA, McElroy AN, et al. base editor 2019;19(1):381-391.
correction of COL7A1 in recessive dystrophic epidermolysis doi: 10.1021/acs.nanolett.8b04098
bullosa patient-derived fibroblasts and iPSCs. J Invest
Dermatol. 2020;140(2):338-347.e5. 55. Jacków J, Titeux M, Portier S, et al. Gene-corrected fibroblast
therapy for recessive dystrophic epidermolysis bullosa
doi: 10.1016/j.jid.2019.07.701 using a self-inactivating COL7A1 retroviral vector. J Invest
45. Naso G, Gkazi SA, Georgiadis C, et al. Cytosine deaminase Dermatol. 2016;136(7):1346-1354.
base editing to restore COL7A1 in dystrophic epidermolysis doi: 10.1016/j.jid.2016.02.811
bullosa human: Murine skin model. JID Innov. 56. Kern JS, Loeckermann S, Fritsch A, et al. Mechanisms of
2023;3(3):100191.
fibroblast cell therapy for dystrophic epidermolysis bullosa:
doi: 10.1016/j.xjidi.2023.100191 High stability of collagen VII favors long-term skin integrity.
46. Hong SA, Kim SE, Lee AY, et al. Therapeutic base editing and Mol Ther. 2009;17(9):1605-1615.
prime editing of COL7A1 mutations in recessive dystrophic doi: 10.1038/mt.2009.144
epidermolysis bullosa. Mol Ther. 2022;30(8):2664-2679.
57. Woodley DT, Remington J, Huang Y, et al. Intravenously
doi: 10.1016/j.ymthe.2022.06.005 injected human fibroblasts home to skin wounds, deliver

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