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Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.
Mencía Á, Chamorro C, Bonafont J, Duarte B, Holguin A, Illera N, Llames SG, Escámez MJ, Hausser I, Del Río M, Larcher F, Murillas R. Mencía Á, et al. Among authors: bonafont j. Mol Ther Nucleic Acids. 2018 Jun 1;11:68-78. doi: 10.1016/j.omtn.2018.01.009. Epub 2018 Jan 31. Mol Ther Nucleic Acids. 2018. PMID: 29858091 Free PMC article.
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.
Bonafont J, Mencía Á, García M, Torres R, Rodríguez S, Carretero M, Chacón-Solano E, Modamio-Høybjør S, Marinas L, León C, Escamez MJ, Hausser I, Del Río M, Murillas R, Larcher F. Bonafont J, et al. Mol Ther. 2019 May 8;27(5):986-998. doi: 10.1016/j.ymthe.2019.03.007. Epub 2019 Mar 15. Mol Ther. 2019. PMID: 30930113 Free PMC article.
Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors.
García M, Bonafont J, Martínez-Palacios J, Xu R, Turchiano G, Svensson S, Thrasher AJ, Larcher F, Del Rio M, Hernández-Alcoceba R, Garín MI, Mencía Á, Murillas R. García M, et al. Among authors: bonafont j. Mol Ther Methods Clin Dev. 2022 Sep 16;27:96-108. doi: 10.1016/j.omtm.2022.09.005. eCollection 2022 Dec 8. Mol Ther Methods Clin Dev. 2022. PMID: 36212909 Free PMC article.
Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis.
Chacón-Solano E, León C, Carretero M, García M, Sánchez-Domínguez R, Quero F, Méndez-Jiménez E, Bonafont J, Ruiz-Mezcua B, Escámez MJ, Larcher F, Del Río M. Chacón-Solano E, et al. Among authors: bonafont j. Matrix Biol. 2022 Aug;111:189-206. doi: 10.1016/j.matbio.2022.06.007. Epub 2022 Jun 30. Matrix Biol. 2022. PMID: 35779740 Free article.
Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome.
Gálvez V, Chacón-Solano E, Bonafont J, Mencía Á, Di WL, Murillas R, Llames S, Vicente A, Del Rio M, Carretero M, Larcher F. Gálvez V, et al. Among authors: bonafont j. Mol Ther Methods Clin Dev. 2020 Jun 11;18:280-290. doi: 10.1016/j.omtm.2020.05.031. eCollection 2020 Sep 11. Mol Ther Methods Clin Dev. 2020. PMID: 32637457 Free PMC article.