{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T02:04:16Z","timestamp":1792807456427,"version":"4.5.0"},"reference-count":207,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T00:00:00Z","timestamp":1715126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"SQY Therapeutics"},{"name":"Genethon"},{"name":"Children\u2019s Hospital of Philadelphia (CHOP)"},{"name":"CHOP Cell and Gene Therapy Seed Grant"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>In recent years, clustered regularly interspaced short palindromic repeats (CRISPRs) and CRISPR-associated (Cas) protein have emerged as a revolutionary gene editing tool to treat inherited disorders affecting different organ systems, such as blood and muscles. Both hematological and neuromuscular genetic disorders benefit from genome editing approaches but face different challenges in their clinical translation. The ability of CRISPR\/Cas9 technologies to modify hematopoietic stem cells ex vivo has greatly accelerated the development of genetic therapies for blood disorders. In the last decade, many clinical trials were initiated and are now delivering encouraging results. The recent FDA approval of Casgevy, the first CRISPR\/Cas9-based drug for severe sickle cell disease and transfusion-dependent \u03b2-thalassemia, represents a significant milestone in the field and highlights the great potential of this technology. Similar preclinical efforts are currently expanding CRISPR therapies to other hematologic disorders such as primary immunodeficiencies. In the neuromuscular field, the versatility of CRISPR\/Cas9 has been instrumental for the generation of new cellular and animal models of Duchenne muscular dystrophy (DMD), offering innovative platforms to speed up preclinical development of therapeutic solutions. Several corrective interventions have been proposed to genetically restore dystrophin production using the CRISPR toolbox and have demonstrated promising results in different DMD animal models. Although these advances represent a significant step forward to the clinical translation of CRISPR\/Cas9 therapies to DMD, there are still many hurdles to overcome, such as in vivo delivery methods associated with high viral vector doses, together with safety and immunological concerns. Collectively, the results obtained in the hematological and neuromuscular fields emphasize the transformative impact of CRISPR\/Cas9 for patients affected by these debilitating conditions. As each field suffers from different and specific challenges, the clinical translation of CRISPR therapies may progress differentially depending on the genetic disorder. Ongoing investigations and clinical trials will address risks and limitations of these therapies, including long-term efficacy, potential genotoxicity, and adverse immune reactions. This review provides insights into the diverse applications of CRISPR-based technologies in both preclinical and clinical settings for monogenic blood disorders and muscular dystrophy and compare advances in both fields while highlighting current trends, difficulties, and challenges to overcome.<\/jats:p>","DOI":"10.3390\/cells13100800","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T13:20:24Z","timestamp":1715174424000},"page":"800","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":112,"title":["CRISPR-Based Gene Therapies: From Preclinical to Clinical Treatments"],"prefix":"10.3390","volume":"13","author":[{"given":"Marine","family":"Laurent","sequence":"first","affiliation":[{"name":"INTEGRARE, UMR_S951, Genethon, Inserm, Univ Evry, Universit\u00e9 Paris-Saclay, 91190 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Geoffroy","sequence":"additional","affiliation":[{"name":"SQY Therapeutics, 78180 Montigny-le-Bretonneux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Pavani","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1987-7454","authenticated-orcid":false,"given":"Simon","family":"Guiraud","sequence":"additional","affiliation":[{"name":"SQY Therapeutics, 78180 Montigny-le-Bretonneux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"eadd8643","DOI":"10.1126\/science.add8643","article-title":"Crispr technology: A decade of genome editing is only the beginning","volume":"379","author":"Wang","year":"2023","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.tibtech.2013.04.004","article-title":"Zfn, talen, and crispr\/cas-based methods for genome engineering","volume":"31","author":"Gaj","year":"2013","journal-title":"Trends Biotechnol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"5429","DOI":"10.1128\/jb.169.12.5429-5433.1987","article-title":"Nucleotide sequence of the iap gene, responsible for alkaline phosphatase isozyme conversion in escherichia coli, and identification of the gene product","volume":"169","author":"Ishino","year":"1987","journal-title":"J. Bacteriol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1111\/j.1365-2958.1993.tb01721.x","article-title":"Transcription at different salinities of haloferax mediterranei sequences adjacent to partially modified psti sites","volume":"9","author":"Mojica","year":"1993","journal-title":"Mol. Microbiol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2551","DOI":"10.1099\/mic.0.28048-0","article-title":"Clustered regularly interspaced short palindrome repeats (crisprs) have spacers of extrachromosomal origin","volume":"151","author":"Bolotin","year":"2005","journal-title":"Microbiology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/nature09886","article-title":"CRISPR RNA maturation by trans-encoded small RNA and host factor RNase III","volume":"471","author":"Deltcheva","year":"2011","journal-title":"Nature"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/s00239-004-0046-3","article-title":"Intervening sequences of regularly spaced prokaryotic repeats derive from foreign genetic elements","volume":"60","author":"Mojica","year":"2005","journal-title":"J. Mol. Evol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"E2579","DOI":"10.1073\/pnas.1208507109","article-title":"Cas9-crrna ribonucleoprotein complex mediates specific DNA cleavage for adaptive immunity in bacteria","volume":"109","author":"Gasiunas","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1126\/science.1225829","article-title":"A programmable dual-rna-guided DNA endonuclease in adaptive bacterial immunity","volume":"337","author":"Jinek","year":"2012","journal-title":"Science"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1126\/science.1231143","article-title":"Multiplex genome engineering using crispr\/cas systems","volume":"339","author":"Cong","year":"2013","journal-title":"Science"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/emboj.2008.11","article-title":"Quality control of DNA break metabolism: In the \u2018end\u2019, it\u2019s a good thing","volume":"27","author":"Kanaar","year":"2008","journal-title":"EMBO J."},{"key":"ref_12","first-page":"309","article-title":"First-in-human phase 1 crispr gene editing cancer trials: Are we ready?","volume":"17","author":"Baylis","year":"2017","journal-title":"Curr. Gene Ther."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e201800267","DOI":"10.26508\/lsa.201800267","article-title":"Crispr-induced double-strand breaks trigger recombination between homologous chromosome arms","volume":"2","author":"Brunner","year":"2019","journal-title":"Life Sci. Alliance"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/jcp.25048","article-title":"Mechanisms and consequences of double-strand DNA break formation in chromatin","volume":"231","author":"Cannan","year":"2016","journal-title":"J. Cell Physiol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"7673","DOI":"10.1093\/nar\/gkw487","article-title":"Chromosome thripsis by DNA double strand break clusters causes enhanced cell lethality, chromosomal translocations and 53bp1-recruitment","volume":"44","author":"Schipler","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1038\/s41588-021-00838-7","article-title":"Chromothripsis as an on-target consequence of crispr-cas9 genome editing","volume":"53","author":"Leibowitz","year":"2021","journal-title":"Nat. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"3125","DOI":"10.1016\/j.ymthe.2021.09.027","article-title":"Crispr-derived genome editing therapies: Progress from bench to bedside","volume":"29","author":"Rees","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1038\/nature24644","article-title":"Programmable base editing of a*t to g*c in genomic DNA without DNA cleavage","volume":"551","author":"Gaudelli","year":"2017","journal-title":"Nature"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/nature17946","article-title":"Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage","volume":"533","author":"Komor","year":"2016","journal-title":"Nature"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1126\/science.aba8853","article-title":"Unconstrained genome targeting with near-pamless engineered crispr-cas9 variants","volume":"368","author":"Walton","year":"2020","journal-title":"Science"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1038\/s41587-020-0592-2","article-title":"Glycosylase base editors enable c-to-a and c-to-g base changes","volume":"39","author":"Zhao","year":"2021","journal-title":"Nat. Biotechnol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/s41587-020-0609-x","article-title":"Crispr c-to-g base editors for inducing targeted DNA transversions in human cells","volume":"39","author":"Kurt","year":"2021","journal-title":"Nat. Biotechnol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1038\/s41576-018-0059-1","article-title":"Base editing: Precision chemistry on the genome and transcriptome of living cells","volume":"19","author":"Rees","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41586-019-1711-4","article-title":"Search-and-replace genome editing without double-strand breaks or donor DNA","volume":"576","author":"Anzalone","year":"2019","journal-title":"Nature"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1038\/s41587-022-01527-4","article-title":"Drag-and-drop genome insertion of large sequences without double-strand DNA cleavage using crispr-directed integrases","volume":"41","author":"Yarnall","year":"2023","journal-title":"Nat. Biotechnol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"10590","DOI":"10.1093\/nar\/gkaa779","article-title":"Enhancing site-specific DNA integration by a cas9 nuclease fused with a DNA donor-binding domain","volume":"48","author":"Ma","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1038\/s41587-022-01494-w","article-title":"Systematic discovery of recombinases for efficient integration of large DNA sequences into the human genome","volume":"41","author":"Durrant","year":"2023","journal-title":"Nat. Biotechnol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/s41587-021-01133-w","article-title":"Programmable deletion, replacement, integration and inversion of large DNA sequences with twin prime editing","volume":"40","author":"Anzalone","year":"2022","journal-title":"Nat. Biotechnol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.gene.2012.11.016","article-title":"Recombinase-mediated cassette exchange (rmce)\u2014A rapidly-expanding toolbox for targeted genomic modifications","volume":"515","author":"Turan","year":"2013","journal-title":"Gene"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.ymeth.2010.12.031","article-title":"Serine recombinases as tools for genome engineering","volume":"53","author":"Brown","year":"2011","journal-title":"Methods"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"13440","DOI":"10.1093\/nar\/gku1082","article-title":"A platform for rapid prototyping of synthetic gene networks in mammalian cells","volume":"42","author":"Duportet","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.cell.2014.09.029","article-title":"Genome-scale crispr-mediated control of gene repression and activation","volume":"159","author":"Gilbert","year":"2014","journal-title":"Cell"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"4509","DOI":"10.1073\/pnas.91.10.4509","article-title":"Kruppel-associated boxes are potent transcriptional repression domains","volume":"91","author":"Margolin","year":"1994","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Cai, R., Lv, R., Shi, X., Yang, G., and Jin, J. (2023). Crispr\/dcas9 tools: Epigenetic mechanism and application in gene transcriptional regulation. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241914865"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Fontana, L., Alahouzou, Z., Miccio, A., and Antoniou, P. (2023). Epigenetic regulation of beta-globin genes and the potential to treat hemoglobinopathies through epigenome editing. Genes, 14.","DOI":"10.3390\/genes14030577"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.cell.2016.08.056","article-title":"Editing DNA methylation in the mammalian genome","volume":"167","author":"Liu","year":"2016","journal-title":"Cell"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/nbt.3199","article-title":"Epigenome editing by a crispr-cas9-based acetyltransferase activates genes from promoters and enhancers","volume":"33","author":"Hilton","year":"2015","journal-title":"Nat. Biotechnol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"15315","DOI":"10.1038\/ncomms15315","article-title":"Locus-specific histone deacetylation using a synthetic crispr-cas9-based hdac","volume":"8","author":"Kwon","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0076-6879(06)19007-2","article-title":"Hematopoietic stem cells","volume":"419","author":"Hawley","year":"2006","journal-title":"Methods Enzymol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"7740","DOI":"10.1111\/febs.16192","article-title":"The biology of hematopoietic stem cells and its clinical implications","volume":"289","author":"Skulimowska","year":"2022","journal-title":"FEBS J."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"e9958","DOI":"10.15252\/emmm.201809958","article-title":"Genetic engineering of hematopoiesis: Current stage of clinical translation and future perspectives","volume":"11","author":"Naldini","year":"2019","journal-title":"EMBO Mol. Med."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/978-3-030-41769-7_14","article-title":"Hemoglobin: Structure, function and allostery","volume":"94","author":"Ahmed","year":"2020","journal-title":"Subcell. Biochem."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Frati, G., and Miccio, A. (2021). Genome editing for beta-hemoglobinopathies: Advances and challenges. J. Clin. Med., 10.","DOI":"10.3390\/jcm10030482"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1001\/jama.1989.03420020120042","article-title":"Herrick\u2019s 1910 case report of sickle cell anemia. The rest of the story","volume":"261","author":"Savitt","year":"1989","journal-title":"JAMA"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1056\/NEJMra1510865","article-title":"Sickle cell disease","volume":"376","author":"Piel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1056\/NEJMra2021838","article-title":"Beta-thalassemias","volume":"384","author":"Taher","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1749-6632.1998.tb10460.x","article-title":"Molecular basis of hereditary persistence of fetal hemoglobin","volume":"850","author":"Forget","year":"1998","journal-title":"Ann. N. Y Acad. Sci."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1126\/science.1242088","article-title":"An erythroid enhancer of bcl11a subject to genetic variation determines fetal hemoglobin level","volume":"342","author":"Bauer","year":"2013","journal-title":"Science"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/nature15521","article-title":"Bcl11a enhancer dissection by cas9-mediated in situ saturating mutagenesis","volume":"527","author":"Canver","year":"2015","journal-title":"Nature"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/s41591-019-0401-y","article-title":"Highly efficient therapeutic gene editing of human hematopoietic stem cells","volume":"25","author":"Wu","year":"2019","journal-title":"Nat. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1056\/NEJMoa2031054","article-title":"Crispr-cas9 gene editing for sickle cell disease and beta-thalassemia","volume":"384","author":"Frangoul","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1573","DOI":"10.1038\/s41591-022-01906-z","article-title":"Crispr-cas9-mediated gene editing of the bcl11a enhancer for pediatric beta(0)\/beta(0) transfusion-dependent beta-thalassemia","volume":"28","author":"Fu","year":"2022","journal-title":"Nat. Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"4995","DOI":"10.1182\/blood-2023-186031","article-title":"Efficacy and safety of brl-101, crispr-cas9-mediated gene editing of the bcl11a enhancer in transfusion-dependent \u03b2-thalassemia","volume":"142","author":"Zheng","year":"2023","journal-title":"Blood"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"10652","DOI":"10.1182\/blood-2022-166365","article-title":"Preliminary safety and efficacy results of edi001: An investigator initiated trial on crispr\/cas9-modified autologous cd34+ hematopoietic stem and progenitor cells for patients with transfusion dependent \u03b2-thalassemia","volume":"140","author":"Shi","year":"2022","journal-title":"Blood"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"3544","DOI":"10.1182\/blood-2019-125743","article-title":"Preliminary results of a phase 1\/2 clinical study of zinc finger nuclease-mediated editing of bcl11a in autologous hematopoietic stem cells for transfusion-dependent beta thalassemia","volume":"134","author":"Smith","year":"2019","journal-title":"Blood"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"3974","DOI":"10.1182\/blood-2021-147907","article-title":"Updated results of a phase 1\/2 clinical study of zinc finger nuclease-mediated editing of bcl11a in autologous hematopoietic stem cells for transfusion-dependent beta thalassemia","volume":"138","author":"Walters","year":"2021","journal-title":"Blood"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"e613965e","DOI":"10.1097\/01.HS9.0000968000.61396.5e","article-title":"Safety and efficacy of rm-001 in patients with transfusion-dependent \u03b2-thalassemia: Early results from the ongoing of autologous hbg1\/2 promoter-modified cd34+ hematopoietic stem and progenitor cells","volume":"7","author":"Liu","year":"2023","journal-title":"HemaSphere"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1097\/01.HS9.0000848716.65161.13","article-title":"Initial safety and efficacy study of rm-001, autologous hbg1\/2 promoter-modified cd34+ hematopoietic stem and progenitor cells, in transfusion-dependent \u03b2eta-thalassemia","volume":"6","author":"Wang","year":"2022","journal-title":"Hemasphere"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"4636","DOI":"10.1182\/blood-2019-130256","article-title":"Edit-301: An experimental autologous cell therapy comprising cas12a-rnp modified mpb-cd34+ cells for the potential treatment of scd","volume":"134","author":"Heath","year":"2019","journal-title":"Blood"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"6618","DOI":"10.1038\/s41467-022-34493-1","article-title":"Base-editing-mediated dissection of a gamma-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression","volume":"13","author":"Antoniou","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"507894","DOI":"10.1155\/2012\/507894","article-title":"Induction of fetal hemoglobin in vivo mediated by a synthetic gamma-globin zinc finger activator","volume":"2012","author":"Costa","year":"2012","journal-title":"Anemia"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"3033","DOI":"10.1182\/blood-2009-08-240556","article-title":"A zinc-finger transcriptional activator designed to interact with the gamma-globin gene promoters enhances fetal hemoglobin production in primary human adult erythroblasts","volume":"115","author":"Wilber","year":"2010","journal-title":"Blood"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/nature20134","article-title":"Crispr\/cas9 beta-globin gene targeting in human haematopoietic stem cells","volume":"539","author":"Dever","year":"2016","journal-title":"Nature"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"360ra134","DOI":"10.1126\/scitranslmed.aaf9336","article-title":"Selection-free genome editing of the sickle mutation in human adult hematopoietic stem\/progenitor cells","volume":"8","author":"DeWitt","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"eabf2444","DOI":"10.1126\/scitranslmed.abf2444","article-title":"Development of beta-globin gene correction in human hematopoietic stem cells as a potential durable treatment for sickle cell disease","volume":"13","author":"Lattanzi","year":"2021","journal-title":"Sci. Transl. Med."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1182\/blood-2021-152892","article-title":"Cedar trial in progress: A first in human, phase 1\/2 study of the correction of a single nucleotide mutation in autologous hscs (gph101) to convert hbs to hba for treating severe scd","volume":"138","author":"Kanter","year":"2021","journal-title":"Blood"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/s41591-021-01284-y","article-title":"Gene replacement of alpha-globin with beta-globin restores hemoglobin balance in beta-thalassemia-derived hematopoietic stem and progenitor cells","volume":"27","author":"Cromer","year":"2021","journal-title":"Nat. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1182\/bloodadvances.2020001996","article-title":"Correction of beta-thalassemia by crispr\/cas9 editing of the alpha-globin locus in human hematopoietic stem cells","volume":"5","author":"Pavani","year":"2021","journal-title":"Blood Adv."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1182\/blood-2021-150922","article-title":"Conversion of hbs to hb g-makassar by adenine base editing is compatible with normal hemoglobin function","volume":"38","author":"Chu","year":"2021","journal-title":"Blood"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/s41586-021-03609-w","article-title":"Base editing of haematopoietic stem cells rescues sickle cell disease in mice","volume":"595","author":"Newby","year":"2021","journal-title":"Nature"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1182\/blood.2022016629","article-title":"Adenine base editor-mediated correction of the common and severe ivs1-110 (g > a) beta-thalassemia mutation","volume":"141","author":"Hardouin","year":"2023","journal-title":"Blood"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/s41551-023-01026-0","article-title":"Ex vivo prime editing of patient haematopoietic stem cells rescues sickle-cell disease phenotypes after engraftment in mice","volume":"7","author":"Everette","year":"2023","journal-title":"Nat. Biomed. Eng."},{"key":"ref_73","first-page":"2085","article-title":"In vivo hsc prime editing rescues sickle cell disease in a mouse model","volume":"141","author":"Li","year":"2023","journal-title":"Blood"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"S182","DOI":"10.1016\/j.jaci.2009.07.053","article-title":"Primary immunodeficiencies","volume":"125","author":"Notarangelo","year":"2010","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/j.ymthe.2017.12.022","article-title":"Gene therapy for adenosine deaminase deficiency: A comprehensive evaluation of short- and medium-term safety","volume":"26","author":"Cicalese","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1056\/NEJMoa1815408","article-title":"Lentiviral gene therapy combined with low-dose busulfan in infants with scid-x1","volume":"380","author":"Mamcarz","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1038\/sj.cgt.7700232","article-title":"Lymphoid abnormalities in cd40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin m (igm) syndrome","volume":"7","author":"Sacco","year":"2000","journal-title":"Cancer Gene Ther."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2513","DOI":"10.1182\/blood-2015-11-683235","article-title":"Targeted gene editing restores regulated cd40l function in x-linked hyper-igm syndrome","volume":"127","author":"Hubbard","year":"2016","journal-title":"Blood"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"e13545","DOI":"10.15252\/emmm.202013545","article-title":"Modeling, optimization, and comparable efficacy of t cell and hematopoietic stem cell gene editing for treating hyper-igm syndrome","volume":"13","author":"Vavassori","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2606","DOI":"10.1016\/j.celrep.2018.04.103","article-title":"Site-specific gene editing of human hematopoietic stem cells for x-linked hyper-igm syndrome","volume":"23","author":"Kuo","year":"2018","journal-title":"Cell Rep."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/j.omtm.2023.08.020","article-title":"Scalable gmp-compliant gene correction of cd4+ t cells with idlv template functionally validated in vitro and in vivo","volume":"30","author":"Asperti","year":"2023","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1016\/j.jaci.2013.10.009","article-title":"Recombination-activating gene 1 (rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune omenn-like syndrome","volume":"133","author":"Sarwari","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"eadh8162","DOI":"10.1126\/scitranslmed.adh8162","article-title":"Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues rag1 immunodeficiency","volume":"16","author":"Castiello","year":"2024","journal-title":"Sci. Transl. Med."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"eaah3480","DOI":"10.1126\/scitranslmed.aah3480","article-title":"Crispr-cas9 gene repair of hematopoietic stem cells from patients with x-linked chronic granulomatous disease","volume":"9","author":"Li","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.ymthe.2016.11.012","article-title":"Targeted repair of cybb in x-cgd ipscs requires retention of intronic sequences for expression and functional correction","volume":"25","author":"Sweeney","year":"2017","journal-title":"Mol. Ther."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/s41434-021-00251-z","article-title":"Correction of x-cgd patient hspcs by targeted cybb cdna insertion using crispr\/cas9 with 53bp1 inhibition for enhanced homology-directed repair","volume":"28","author":"Sweeney","year":"2021","journal-title":"Gene Ther."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"2598","DOI":"10.1182\/blood.2020008503","article-title":"Enhanced homology-directed repair for highly efficient gene editing in hematopoietic stem\/progenitor cells","volume":"137","author":"Brault","year":"2021","journal-title":"Blood"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1089\/hum.2019.194","article-title":"Differential transgene silencing of myeloid-specific promoters in the aavs1 safe harbor locus of induced pluripotent stem cell-derived myeloid cells","volume":"31","author":"Klatt","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1182\/bloodadvances.2016001214","article-title":"Gene-edited pseudogene resurrection corrects p47(phox)-deficient chronic granulomatous disease","volume":"1","author":"Merling","year":"2017","journal-title":"Blood Adv."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"598","DOI":"10.3324\/haematol.2019.221804","article-title":"Crispr\/cas9-mediated elane knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients","volume":"105","author":"Nasri","year":"2020","journal-title":"Haematologica"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/j.stem.2020.12.015","article-title":"Dissecting elane neutropenia pathogenicity by human hsc gene editing","volume":"28","author":"Rao","year":"2021","journal-title":"Cell Stem Cell"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.omtm.2022.06.002","article-title":"Mutant allele knockout with novel crispr nuclease promotes myelopoiesis in elane neutropenia","volume":"26","author":"Sabo","year":"2022","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1056\/NEJMoa031178","article-title":"Effect of cd3delta deficiency on maturation of alpha\/beta and gamma\/delta t-cell lineages in severe combined immunodeficiency","volume":"349","author":"Dadi","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1016\/j.cell.2023.02.027","article-title":"Human t cell generation is restored in cd3delta severe combined immunodeficiency through adenine base editing","volume":"186","author":"McAuley","year":"2023","journal-title":"Cell"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/nri2724","article-title":"Wasp: A key immunological multitasker","volume":"10","author":"Thrasher","year":"2010","journal-title":"Nat. Rev. Immunol."},{"key":"ref_96","first-page":"2852","article-title":"Single application in ocalex expansion therapy","volume":"53","author":"Bernard","year":"1971","journal-title":"Inf. Dent."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1001\/jama.2015.3253","article-title":"Outcomes following gene therapy in patients with severe wiskott-aldrich syndrome","volume":"313","author":"Gaspar","year":"2015","journal-title":"JAMA"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/s41591-021-01641-x","article-title":"Long-term safety and efficacy of lentiviral hematopoietic stem\/progenitor cell gene therapy for wiskott-aldrich syndrome","volume":"28","author":"Magnani","year":"2022","journal-title":"Nat. Med."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1089\/hum.2017.047","article-title":"Comparison of zinc finger nucleases versus crispr-specific nucleases for genome editing of the wiskott-aldrich syndrome locus","volume":"29","author":"Galvani","year":"2018","journal-title":"Hum. Gene Ther."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.stemcr.2016.06.003","article-title":"Gene correction of ipscs from a wiskott-aldrich syndrome patient normalizes the lymphoid developmental and functional defects","volume":"7","author":"Laskowski","year":"2016","journal-title":"Stem Cell Rep."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"4034","DOI":"10.1038\/s41467-020-17626-2","article-title":"Targeted gene correction of human hematopoietic stem cells for the treatment of wiskott\u2014Aldrich syndrome","volume":"11","author":"Rai","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1089\/hum.2020.185","article-title":"Gene editing for the treatment of primary immunodeficiency diseases","volume":"32","author":"Rai","year":"2021","journal-title":"Hum. Gene Ther."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1146\/annurev-genom-090314-025003","article-title":"The pathogenesis and therapy of muscular dystrophies","volume":"16","author":"Guiraud","year":"2015","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.22758","article-title":"The treat-nmd dmd global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations","volume":"36","author":"Bladen","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/323646a0","article-title":"Isolation of candidate cdnas for portions of the duchenne muscular dystrophy gene","volume":"323","author":"Monaco","year":"1986","journal-title":"Nature"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","article-title":"Dystrophin: The protein product of the duchenne muscular dystrophy locus","volume":"51","author":"Hoffman","year":"1987","journal-title":"Cell"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00028.2001","article-title":"Function and genetics of dystrophin and dystrophin-related proteins in muscle","volume":"82","author":"Blake","year":"2002","journal-title":"Physiol. Rev."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/0960-8966(93)90018-F","article-title":"Duchenne muscular dystrophy\u2013meryon\u2019s disease","volume":"3","author":"Emery","year":"1993","journal-title":"Neuromuscul. Disord."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/mus.880100212","article-title":"Management of end stage respiratory failure in duchenne muscular dystrophy","volume":"10","author":"Bach","year":"1987","journal-title":"Muscle Nerve"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"e2304","DOI":"10.1212\/WNL.0000000000012910","article-title":"Life expectancy in duchenne muscular dystrophy: Reproduced individual patient data meta-analysis","volume":"97","author":"Broomfield","year":"2021","journal-title":"Neurology"},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Wilton-Clark, H., and Yokota, T. (2023). Recent trends in antisense therapies for duchenne muscular dystrophy. Pharmaceutics, 15.","DOI":"10.20944\/preprints202301.0139.v1"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1080\/14712598.2017.1271872","article-title":"Exon skipping: A first in class strategy for duchenne muscular dystrophy","volume":"17","author":"Niks","year":"2017","journal-title":"Expert. Opin. Biol. Ther."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/mus.24332","article-title":"Ataluren treatment of patients with nonsense mutation dystrophinopathy","volume":"50","author":"Bushby","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1080\/14737175.2023.2249607","article-title":"Gene therapy for duchenne muscular dystrophy: An update on the latest clinical developments","volume":"23","author":"Tremblay","year":"2023","journal-title":"Expert. Rev. Neurother."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.coph.2017.04.002","article-title":"Pharmacological advances for treatment in duchenne muscular dystrophy","volume":"34","author":"Guiraud","year":"2017","journal-title":"Curr. Opin. Pharmacol."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"e38","DOI":"10.1038\/mtna.2012.30","article-title":"Pip6-pmo, a new generation of peptide-oligonucleotide conjugates with improved cardiac exon skipping activity for dmd treatment","volume":"1","author":"Betts","year":"2012","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nm.3765","article-title":"Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers","volume":"21","author":"Goyenvalle","year":"2015","journal-title":"Nat. Med."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/2044-5040-1-34","article-title":"Immortalized pathological human myoblasts: Towards a universal tool for the study of neuromuscular disorders","volume":"1","author":"Mamchaoui","year":"2011","journal-title":"Skelet. Muscle"},{"key":"ref_119","doi-asserted-by":"crossref","unstructured":"Alizadeh, F., Abraghan, Y.J., Farrokhi, S., Yousefi, Y., Mirahmadi, Y., Eslahi, A., and Mojarrad, M. (2023). Production of duchenne muscular dystrophy cellular model using crispr-cas9 exon deletion strategy. Mol. Cell Biochem., 1\u201314.","DOI":"10.1007\/s11010-023-04759-3"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"18188","DOI":"10.1038\/s41598-021-97730-5","article-title":"Duchenne muscular dystrophy cell culture models created by crispr\/cas9 gene editing and their application in drug screening","volume":"11","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_121","doi-asserted-by":"crossref","unstructured":"Happi Mbakam, C., Rousseau, J., Tremblay, G., Yameogo, P., and Tremblay, J.P. (2022). Prime editing permits the introduction of specific mutations in the gene responsible for duchenne muscular dystrophy. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23116160"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/nan.12448","article-title":"Myoblots: Dystrophin quantification by in-cell western assay for a streamlined development of duchenne muscular dystrophy (dmd) treatments","volume":"44","author":"Mamchaoui","year":"2018","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_123","doi-asserted-by":"crossref","unstructured":"Geoffroy, M., Pili, L., Buffa, V., Caroff, M., Bigot, A., Gicquel, E., Rouby, G., Richard, I., and Fragnoud, R. (2023). Crispr-cas9 ko cell line generation and development of a cell-based potency assay for raav-fkrp gene therapy. Cells, 12.","DOI":"10.3390\/cells12202444"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1073\/pnas.81.4.1189","article-title":"X chromosome-linked muscular dystrophy (mdx) in the mouse","volume":"81","author":"Bulfield","year":"1984","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1016\/j.ymthe.2020.05.024","article-title":"Correction of three prominent mutations in mouse and human models of duchenne muscular dystrophy by single-cut genome editing","volume":"28","author":"Min","year":"2020","journal-title":"Mol. Ther."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"eaan8081","DOI":"10.1126\/scitranslmed.aan8081","article-title":"Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy","volume":"9","author":"Amoasii","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"eaav4324","DOI":"10.1126\/sciadv.aav4324","article-title":"Crispr-cas9 corrects duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells","volume":"5","author":"Min","year":"2019","journal-title":"Sci. Adv."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"dmm037655","DOI":"10.1242\/dmm.037655","article-title":"Crispr\/cas9-generated mouse model of duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human dmd gene","volume":"12","author":"Egorova","year":"2019","journal-title":"Dis. Model. Mech."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/nbt.3816","article-title":"Highly efficient rna-guided base editing in mouse embryos","volume":"35","author":"Kim","year":"2017","journal-title":"Nat. Biotechnol."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1016\/j.ymthe.2018.03.018","article-title":"Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using campylobacter jejuni cas9","volume":"26","author":"Koo","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.1016\/j.ymthe.2021.09.003","article-title":"Full-length dystrophin restoration via targeted exon integration by aav-crispr in a humanized mouse model of duchenne muscular dystrophy","volume":"29","author":"Gough","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"139","DOI":"10.3233\/JND-170218","article-title":"Creation of a novel humanized dystrophic mouse model of duchenne muscular dystrophy and application of a crispr\/cas9 gene editing therapy","volume":"4","author":"Young","year":"2017","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"7101","DOI":"10.1038\/s41467-021-26714-w","article-title":"Low immunogenicity of lnp allows repeated administrations of crispr-cas9 mrna into skeletal muscle in mice","volume":"12","author":"Kenjo","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_134","doi-asserted-by":"crossref","unstructured":"Larcher, T., Lafoux, A., Tesson, L., Remy, S., Thepenier, V., Francois, V., Le Guiner, C., Goubin, H., Dutilleul, M., and Guigand, L. (2014). Characterization of dystrophin deficient rats: A new model for duchenne muscular dystrophy. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0110371"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/s40478-022-01355-2","article-title":"Duchenne muscular dystrophy trajectory in r-dmddel52 preclinical rat model identifies comp as biomarker of fibrosis","volume":"10","author":"Taglietti","year":"2022","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"5635","DOI":"10.1038\/srep05635","article-title":"Generation of muscular dystrophy model rats with a crispr\/cas system","volume":"4","author":"Nakamura","year":"2014","journal-title":"Sci. Rep."},{"key":"ref_137","unstructured":"Daoud, C. (2024, May 03). Characterization and crispr-based treatment of dmd\u03b445 rat model\u2013p677. European society for gene and cell therapy, 11\u201314 October 2022. Available online: https:\/\/www.genethon.com\/genethons-latest-research-including-advances-in-gene-editing-and-aav-delivery-vectors-for-gene-therapy-to-be-featured-at-european-society-for-gene-and-cell-therapy-oct-11-14-2022\/."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"dmm032201","DOI":"10.1242\/dmm.032201","article-title":"A novel rabbit model of duchenne muscular dystrophy generated by crispr\/cas9","volume":"11","author":"Sui","year":"2018","journal-title":"Dis. Model. Mech."},{"key":"ref_139","doi-asserted-by":"crossref","unstructured":"Echigoya, Y., Trieu, N., Duddy, W., Moulton, H.M., Yin, H., Partridge, T.A., Hoffman, E.P., Kornegay, J.N., Rohret, F.A., and Rogers, C.S. (2021). A dystrophin exon-52 deleted miniature pig model of duchenne muscular dystrophy and evaluation of exon skipping. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms222313065"},{"key":"ref_140","doi-asserted-by":"crossref","unstructured":"Yu, H.H., Zhao, H., Qing, Y.B., Pan, W.R., Jia, B.Y., Zhao, H.Y., Huang, X.X., and Wei, H.J. (2016). Porcine zygote injection with cas9\/sgrna results in dmd-modified pig with muscle dystrophy. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17101668"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"2852","DOI":"10.1038\/s41467-019-10421-8","article-title":"Efficient base editing for multiple genes and loci in pigs using base editors","volume":"10","author":"Xie","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/0888-7543(92)90210-J","article-title":"An error in dystrophin mrna processing in golden retriever muscular dystrophy, an animal homologue of duchenne muscular dystrophy","volume":"13","author":"Sharp","year":"1992","journal-title":"Genomics"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/334154a0","article-title":"The homologue of the duchenne locus is defective in x-linked muscular dystrophy of dogs","volume":"334","author":"Cooper","year":"1988","journal-title":"Nature"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1538\/expanim.52.93","article-title":"Canine x-linked muscular dystrophy in japan (cxmdj)","volume":"52","author":"Shimatsu","year":"2003","journal-title":"Exp. Anim."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1089\/humc.2015.006","article-title":"Duchenne muscular dystrophy gene therapy in the canine model","volume":"26","author":"Duan","year":"2015","journal-title":"Hum. Gene Ther. Clin. Dev."},{"key":"ref_146","doi-asserted-by":"crossref","unstructured":"Oh, H.J., Chung, E., Kim, J., Kim, M.J., Kim, G.A., Lee, S.H., Ra, K., Eom, K., Park, S., and Chae, J.H. (2022). Generation of a dystrophin mutant in dog by nuclear transfer using crispr\/cas9-mediated somatic cells: A preliminary study. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23052898"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"3764","DOI":"10.1093\/hmg\/ddv120","article-title":"Functional disruption of the dystrophin gene in rhesus monkey using crispr\/cas9","volume":"24","author":"Chen","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the leiden duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"Fokkema","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_149","doi-asserted-by":"crossref","unstructured":"Erkut, E., and Yokota, T. (2022). Crispr therapeutics for duchenne muscular dystrophy. Int. J. Mol. Sci., 23.","DOI":"10.20944\/preprints202201.0265.v1"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"e1580","DOI":"10.1002\/wsbm.1580","article-title":"Crispr applications for duchenne muscular dystrophy: From animal models to potential therapies","volume":"15","author":"Chey","year":"2023","journal-title":"WIREs Mech. Dis."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1126\/science.aad5143","article-title":"In vivo genome editing improves muscle function in a mouse model of duchenne muscular dystrophy","volume":"351","author":"Nelson","year":"2016","journal-title":"Science"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1126\/science.aad5725","article-title":"Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy","volume":"351","author":"Long","year":"2016","journal-title":"Science"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1126\/science.aad5177","article-title":"In vivo gene editing in dystrophic mouse muscle and muscle stem cells","volume":"351","author":"Tabebordbar","year":"2016","journal-title":"Science"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1016\/j.ymthe.2019.05.001","article-title":"Life-long aav-mediated crispr genome editing in dystrophic heart improves cardiomyopathy without causing serious lesions in mdx mice","volume":"27","author":"Xu","year":"2019","journal-title":"Mol. Ther."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1038\/s41591-019-0344-3","article-title":"Long-term evaluation of aav-crispr genome editing for duchenne muscular dystrophy","volume":"25","author":"Nelson","year":"2019","journal-title":"Nat. Med."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"e124297","DOI":"10.1172\/jci.insight.124297","article-title":"Aav crispr editing rescues cardiac and muscle function for 18 months in dystrophic mice","volume":"3","author":"Hakim","year":"2018","journal-title":"JCI Insight"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"2604","DOI":"10.1016\/j.ymthe.2018.08.010","article-title":"Crispr-induced deletion with sacas9 restores dystrophin expression in dystrophic models in vitro and in vivo","volume":"26","author":"Duchene","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"14454","DOI":"10.1038\/ncomms14454","article-title":"Muscle-specific crispr\/cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for duchenne muscular dystrophy","volume":"8","author":"Bengtsson","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1016\/j.ymthe.2020.11.003","article-title":"Dystrophin gene-editing stability is dependent on dystrophin levels in skeletal but not cardiac muscles","volume":"29","author":"Bengtsson","year":"2021","journal-title":"Mol. Ther."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"e13228","DOI":"10.15252\/emmm.202013228","article-title":"Targeted genome editing in vivo corrects a dmd duplication restoring wild-type dystrophin expression","volume":"13","author":"Maino","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/s41591-019-0738-2","article-title":"Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of duchenne muscular dystrophy","volume":"26","author":"Moretti","year":"2020","journal-title":"Nat. Med."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1126\/science.aau1549","article-title":"Gene editing restores dystrophin expression in a canine model of duchenne muscular dystrophy","volume":"362","author":"Amoasii","year":"2018","journal-title":"Science"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"6244","DOI":"10.1038\/ncomms7244","article-title":"Multiplex crispr\/cas9-based genome editing for correction of dystrophin mutations that cause duchenne muscular dystrophy","volume":"6","author":"Ousterout","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/nrg1180","article-title":"Advances in duchenne muscular dystrophy gene therapy","volume":"4","year":"2003","journal-title":"Nat. Rev. Genet."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1038\/jhg.2017.57","article-title":"Moving towards successful exon-skipping therapy for duchenne muscular dystrophy","volume":"62","author":"Nakamura","year":"2017","journal-title":"J. Hum. Genet."},{"key":"ref_166","doi-asserted-by":"crossref","unstructured":"Chen, G., Wei, T., Yang, H., Li, G., and Li, H. (2022). Crispr-based therapeutic gene editing for duchenne muscular dystrophy: Advances, challenges and perspectives. Cells, 11.","DOI":"10.3390\/cells11192964"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.omtn.2022.07.024","article-title":"A humanized knockin mouse model of duchenne muscular dystrophy and its correction by crispr-cas9 therapeutic gene editing","volume":"29","author":"Zhang","year":"2022","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.omtn.2022.03.004","article-title":"Long-term maintenance of dystrophin expression and resistance to injury of skeletal muscle in gene edited dmd mice","volume":"28","author":"Karri","year":"2022","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"eaay6812","DOI":"10.1126\/sciadv.aay6812","article-title":"Enhanced crispr-cas9 correction of duchenne muscular dystrophy in mice by a self-complementary aav delivery system","volume":"6","author":"Zhang","year":"2020","journal-title":"Sci. Adv."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.stemcr.2014.10.013","article-title":"Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent stem cells by talen and crispr-cas9","volume":"4","author":"Li","year":"2015","journal-title":"Stem Cell Rep."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.omtm.2021.05.014","article-title":"A consolidated aav system for single-cut crispr correction of a common duchenne muscular dystrophy mutation","volume":"22","author":"Zhang","year":"2021","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1126\/science.1254445","article-title":"Prevention of muscular dystrophy in mice by crispr\/cas9-mediated editing of germline DNA","volume":"345","author":"Long","year":"2014","journal-title":"Science"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"e1602814","DOI":"10.1126\/sciadv.1602814","article-title":"Crispr-cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice","volume":"3","author":"Zhang","year":"2017","journal-title":"Sci. Adv."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.omtn.2017.02.007","article-title":"Crispr\/cas9-mediated genome editing corrects dystrophin mutation in skeletal muscle stem cells in a mouse model of muscle dystrophy","volume":"7","author":"Zhu","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_175","doi-asserted-by":"crossref","unstructured":"Mata Lopez, S., Balog-Alvarez, C., Vitha, S., Bettis, A.K., Canessa, E.H., Kornegay, J.N., and Nghiem, P.P. (2020). Challenges associated with homologous directed repair using crispr-cas9 and talen to edit the dmd genetic mutation in canine duchenne muscular dystrophy. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0241430"},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/nature20565","article-title":"In vivo genome editing via crispr\/cas9 mediated homology-independent targeted integration","volume":"540","author":"Suzuki","year":"2016","journal-title":"Nature"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/s10038-017-0352-4","article-title":"In vivo genome editing via the hiti method as a tool for gene therapy","volume":"63","author":"Suzuki","year":"2018","journal-title":"J. Hum. Genet."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/humu.20918","article-title":"Theoretic applicability of antisense-mediated exon skipping for duchenne muscular dystrophy mutations","volume":"30","author":"Fokkema","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1126\/science.aaw7166","article-title":"Cytosine, but not adenine, base editors induce genome-wide off-target mutations in rice","volume":"364","author":"Jin","year":"2019","journal-title":"Science"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"4804","DOI":"10.1038\/s41467-018-07322-7","article-title":"Targeting fidelity of adenine and cytosine base editors in mouse embryos","volume":"9","author":"Lee","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1038\/nbt.4148","article-title":"Adenine base editing in mouse embryos and an adult mouse model of duchenne muscular dystrophy","volume":"36","author":"Ryu","year":"2018","journal-title":"Nat. Biotechnol."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"3719","DOI":"10.1038\/s41467-021-23996-y","article-title":"Efficient precise in vivo base editing in adult dystrophic mice","volume":"12","author":"Xu","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1161\/CIRCULATIONAHA.121.054628","article-title":"Therapeutic exon skipping through a crispr-guided cytidine deaminase rescues dystrophic cardiomyopathy in vivo","volume":"144","author":"Li","year":"2021","journal-title":"Circulation"},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"eabg4910","DOI":"10.1126\/sciadv.abg4910","article-title":"Precise correction of duchenne muscular dystrophy exon deletion mutations by base and prime editing","volume":"7","author":"Chemello","year":"2021","journal-title":"Sci. Adv."},{"key":"ref_185","doi-asserted-by":"crossref","unstructured":"Davis, J.R., Wang, X., Witte, I.P., Huang, T.P., Levy, J.M., Raguram, A., Banskota, S., Seidah, N.G., Musunuru, K., and Liu, D.R. (2022). Publisher correction: Efficient in vivo base editing via single adenoassociated viruses with size-optimized genomes encoding compact adenine base editors. Nat. Biomed. Eng., 6.","DOI":"10.1038\/s41551-022-00934-x"},{"key":"ref_186","doi-asserted-by":"crossref","unstructured":"Godbout, K., and Tremblay, J.P. (2023). Prime editing for human gene therapy: Where are we now?. Cells, 12.","DOI":"10.3390\/cells12040536"},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"1128557","DOI":"10.3389\/fmed.2023.1128557","article-title":"Prime editing strategies to mediate exon skipping in dmd gene","volume":"10","author":"Roustant","year":"2023","journal-title":"Front Med."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.omtn.2022.09.022","article-title":"Prime editing optimized rtt permits the correction of the c.8713c>t mutation in dmd gene","volume":"30","author":"Rousseau","year":"2022","journal-title":"Mol Ther Nucleic Acids"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1089\/crispr.2020.0064","article-title":"Crispr-cas activators for engineering gene expression in higher eukaryotes","volume":"3","author":"Zinselmeier","year":"2020","journal-title":"CRISPR J."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1080\/21678707.2018.1438261","article-title":"The potential of utrophin modulators for the treatment of duchenne muscular dystrophy","volume":"6","author":"Guiraud","year":"2018","journal-title":"Expert. Opin. Orphan Drugs"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/339055a0","article-title":"An autosomal transcript in skeletal muscle with homology to dystrophin","volume":"339","author":"Love","year":"1989","journal-title":"Nature"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/360591a0","article-title":"Primary structure of dystrophin-related protein","volume":"360","author":"Tinsley","year":"1992","journal-title":"Nature"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1038\/4033","article-title":"Expression of full-length utrophin prevents muscular dystrophy in mdx mice","volume":"4","author":"Tinsley","year":"1998","journal-title":"Nat. Med."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"3333","DOI":"10.1093\/hmg\/11.26.3333","article-title":"Prevention of pathology in mdx mice by expression of utrophin: Analysis using an inducible transgenic expression system","volume":"11","author":"Squire","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/S0960-8966(01)00220-6","article-title":"Non-toxic ubiquitous over-expression of utrophin in the mdx mouse","volume":"11","author":"Fisher","year":"2001","journal-title":"Neuromuscul. Disord."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"4212","DOI":"10.1093\/hmg\/ddv154","article-title":"Second-generation compound for the modulation of utrophin in the therapy of dmd","volume":"24","author":"Guiraud","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.ajhg.2015.11.012","article-title":"Spell checking nature: Versatility of crispr\/cas9 for developing treatments for inherited disorders","volume":"98","author":"Wojtal","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1016\/j.cell.2017.10.025","article-title":"In vivo target gene activation via crispr\/cas9-mediated trans-epigenetic modulation","volume":"171","author":"Liao","year":"2017","journal-title":"Cell"},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1056\/NEJMoa2307798","article-title":"Death after high-dose raav9 gene therapy in a patient with duchenne\u2019s muscular dystrophy","volume":"389","author":"Lek","year":"2023","journal-title":"N. Engl. J. Med."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"3123","DOI":"10.1016\/j.ymthe.2023.10.015","article-title":"Lethal immunotoxicity in high-dose systemic aav therapy","volume":"31","author":"Duan","year":"2023","journal-title":"Mol. Ther."},{"key":"ref_201","first-page":"615619","article-title":"Genomic engineering in human hematopoietic stem cells: Hype or hope?","volume":"2","author":"Zittersteijn","year":"2020","journal-title":"Front. Genome Ed."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1016\/j.ymthe.2018.07.011","article-title":"Systemic aav micro-dystrophin gene therapy for duchenne muscular dystrophy","volume":"26","author":"Duan","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"100756","DOI":"10.1016\/j.crmeth.2024.100756","article-title":"Mutational rescue of the activity of high-fidelity cas9 enzymes","volume":"4","author":"Vos","year":"2024","journal-title":"Cell Rep. Methods"},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ajh.26741","article-title":"Lovo-cel gene therapy for sickle cell disease: Treatment process evolution and outcomes in the initial groups of the hgb-206 study","volume":"98","author":"Kanter","year":"2023","journal-title":"Am. J. Hematol."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/d41587-023-00016-6","article-title":"The world\u2019s first crispr therapy is approved: Who will receive it?","volume":"42","author":"Sheridan","year":"2024","journal-title":"Nat. Biotechnol."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.pediatrneurol.2024.01.003","article-title":"Practical considerations for delandistrogene moxeparvovec gene therapy in patients with duchenne muscular dystrophy","volume":"153","author":"Mendell","year":"2024","journal-title":"Pediatr. Neurol."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"1842","DOI":"10.1038\/s41467-019-09693-x","article-title":"Multifunctional crispr-cas9 with engineered immunosilenced human t cell epitopes","volume":"10","author":"Ferdosi","year":"2019","journal-title":"Nat. Commun."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/13\/10\/800\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:41:39Z","timestamp":1760107299000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/13\/10\/800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,8]]},"references-count":207,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2024,5]]}},"alternative-id":["cells13100800"],"URL":"https:\/\/doi.org\/10.3390\/cells13100800","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,8]]}}}