Tremblay JP. The CRISPR system can correct or modify the expression of genes responsible for hereditary diseases. Med Sci (Paris). 2015;31:1014–22.
Google Scholar
Doudna JA. The promise and challenge of therapeutic genome editing. Nature. 2020;578:229–36.
Google Scholar
Young CS, Pyle AD, Spencer MJ. CRISPR for neuromuscular disorders: gene editing and beyond. Physiology (Bethesda). 2019;34:341–53.
Google Scholar
Kim E, Koo T, Park SW, Kim D, Kim K, Cho HY, et al. In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni. Nat Commun. 2017;8:14500.
Google Scholar
Chang YJ, Bae J, Zhao Y, Lee G, Han J, Lee YH, et al. In vivo multiplex gene targeting with Streptococcus pyogens and Campylobacter jejuni Cas9 for pancreatic cancer modeling in wild-type animal. J Vet Sci. 2020;21:e26.
Google Scholar
Iyombe-Engembe JP, Ouellet DL, Barbeau X, Rousseau J, Chapdelaine P, Lague P, et al. Efficient restoration of the dystrophin gene reading frame and protein structure in DMD myoblasts using the CinDel method. Mol Ther Nucleic Acids. 2016;5:e283.
Google Scholar
Ouellet DL, Cherif K, Rousseau J, Tremblay JP. Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia. Gene Ther. 2017;24:265–74.
Google Scholar
Duchene BL, Cherif K, Iyombe-Engembe JP, Guyon A, Rousseau J, Ouellet DL, et al. CRISPR-induced deletion with SaCas9 restores dystrophin expression in dystrophic models in vitro and in vivo. Mol Ther. 2018;26:2604–16.
Google Scholar
Wang D, Zhang F, Gao G. CRISPR-based therapeutic genome editing: strategies and in vivo delivery by AAV vectors. Cell. 2020;181:136–50.
Google Scholar
Marino ND, Pinilla-Redondo R, Csorgo B, Bondy-Denomy J. Anti-CRISPR protein applications: natural brakes for CRISPR-Cas technologies. Nat Methods. 2020;17:471–9.
Google Scholar
Li A, Tanner MR, Lee CM, Hurley AE, De Giorgi M, Jarrett KE, et al. AAV-CRISPR gene editing is negated by pre-existing immunity to Cas9. Mol Ther. 2020;28:1432–41.
Google Scholar
Wagner DL, Amini L, Wendering DJ, Burkhardt LM, Akyuz L, Reinke P, et al. High prevalence of Streptococcus pyogenes Cas9-reactive T cells within the adult human population. Nat Med. 2019;25:242–8.
Google Scholar
Charlesworth CT, Deshpande PS, Dever DP, Camarena J, Lemgart VT, Cromer MK, et al. Identification of preexisting adaptive immunity to Cas9 proteins in humans. Nat Med. 2019;25:249–54.
Google Scholar
Barkau CL, O’Reilly D, Rohilla KJ, Damha MJ, Gagnon KT. Rationally designed anti-CRISPR nucleic acid inhibitors of CRISPR-Cas9. Nucleic Acid Ther. 2019;29:136–47.
Google Scholar
Bondy-Denomy J. Protein inhibitors of CRISPR-Cas9. ACS Chem Biol. 2018;13:417–23.
Google Scholar
Senturk S, Shirole NH, Nowak DG, Corbo V, Pal D, Vaughan A, et al. Rapid and tunable method to temporally control gene editing based on conditional Cas9 stabilization. Nat Commun. 2017;8:14370.
Google Scholar
Keeling KM, Xue X, Gunn G, Bedwell DM. Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet. 2014;15:371–94.
Google Scholar
Keeling KM, Wang D, Conard SE, Bedwell DM. Suppression of premature termination codons as a therapeutic approach. Crit Rev Biochem Mol Biol. 2012;47:444–63.
Google Scholar
Malik V, Rodino-Klapac LR, Viollet L, Mendell JR. Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. Ther Adv Neurol Disord. 2010;3:379–89.
Google Scholar
Palmer E, Wilhelm JM, Sherman F. Phenotypic suppression of nonsense mutants in yeast by aminoglycoside antibiotics. Nature. 1979;277:148–50.
Google Scholar
Francois B, Russell RJ, Murray JB, Aboul-ela F, Masquida B, Vicens Q, et al. Crystal structures of complexes between aminoglycosides and decoding A site oligonucleotides: role of the number of rings and positive charges in the specific binding leading to miscoding. Nucleic Acids Res. 2005;33:5677–90.
Google Scholar
Garreau de Loubresse N, Prokhorova I, Holtkamp W, Rodnina MV, Yusupova G, Yusupov M. Structural basis for the inhibition of the eukaryotic ribosome. Nature. 2014;513:517–22.
Google Scholar
Madisen L, Zwingman TA, Sunkin SM, Oh SW, Zariwala HA, Gu H, et al. A robust and high-throughput Cre reporting and characterization system for the whole mouse brain. Nat Neurosci. 2010;13:133–40.
Google Scholar
Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, et al. A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia. Dis Model Mech. 2015;8:225–35.
Google Scholar
McHugh DR, Steele MS, Valerio DM, Miron A, Mann RJ, LePage DF, et al. A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. PLoS One. 2018;13:e0199573.
Google Scholar
Friesen WJ, Johnson B, Sierra J, Zhuo J, Vazirani P, Xue X, et al. The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential. PLoS One. 2018;13:e0206158.
Google Scholar
He X, Urip BA, Zhang Z, Ngan CC, Feng B. Evolving AAV-delivered therapeutics towards ultimate cures. J Mol Med (Berl). 2021;99:593–617.
Pineda M, Lear A, Collins JP, Kiani S. Safe CRISPR: challenges and possible solutions. Trends Biotechnol. 2019;37:389–401.
Wilbie D, Walther J, Mastrobattista E. Delivery aspects of CRISPR/Cas for in vivo genome editing. Acc Chem Res. 2019;52:1555–64.
Google Scholar
Marino ND, Pinilla-Redondo R, Csorgo B, Bondy-Denomy J. Anti-CRISPR protein applications: natural brakes for CRISPR-Cas technologies. Nat Methods. 2020;17:417–9.
Maji B, Gangopadhyay SA, Lee M, Shi M, Wu P, Heler R, et al. A high-throughput platform to identify small-molecule inhibitors of CRISPR-Cas9. Cell. 2019;177:1067–79.e19.
Google Scholar
Gee P, Lung MSY, Okuzaki Y, Sasakawa N, Iguchi T, Makita Y, et al. Extracellular nanovesicles for packaging of CRISPR-Cas9 protein and sgRNA to induce therapeutic exon skipping. Nat Commun. 2020;11:1334.
Google Scholar
Chen R, Huang H, Liu H, Xi J, Ning J, Zeng W, et al. Friend or foe? Evidence indicates endogenous exosomes can deliver functional gRNA and Cas9 protein. Small. 2019;15:e1902686.
Google Scholar
Finn JD, Smith AR, Patel MC, Shaw L, Youniss MR, van Heteren J, et al. A single administration of CRISPR/Cas9 lipid nanoparticles achieves robust and persistent in vivo genome editing. Cell Rep. 2018;22:2227–35.
Google Scholar
Petris G, Casini A, Montagna C, Lorenzin F, Prandi D, Romanel A, et al. Hit and go CAS9 delivered through a lentiviral based self-limiting circuit. Nat Commun. 2017;8:15334.
Google Scholar
Guo T, Feng YL, Xiao JJ, Liu Q, Sun XN, Xiang JF, et al. Harnessing accurate non-homologous end joining for efficient precise deletion in CRISPR/Cas9-mediated genome editing. Genome Biol. 2018;19:170.
Google Scholar
Li A, Lee CM, Hurley AE, Jarrett KE, De Giorgi M, Lu W, et al. A self-deleting AAV-CRISPR system for in vivo genome editing. Mol Ther Methods Clin Dev. 2019;12:111–22.
Google Scholar
Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest. 1999;104:375–81.
Google Scholar
Baradaran-Heravi A, Balgi AD, Zimmerman C, Choi K, Shidmoossavee FS, Tan JS, et al. Novel small molecules potentiate premature termination codon readthrough by aminoglycosides. Nucleic Acids Res. 2016;44:6583–98.
Google Scholar
Ferguson MW, Gerak CAN, Chow CCT, Rastelli EJ, Elmore KE, Stahl F, et al. The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418. PLoS One. 2019;14:e0216423.
Google Scholar
Frew J, Baradaran-Heravi A, Balgi AD, Wu X, Yan TD, Arns S, et al. Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency. Mol Neurodegener. 2020;15:21.
Google Scholar
Borgatti M, Altamura E, Salvatori F, D’Aversa E, Altamura N. Screening readthrough compounds to suppress nonsense mutations: possible application to beta-thalassemia. J Clin Med. 2020;9:289.
Baiazitov RY, Friesen W, Johnson B, Mollin A, Sheedy J, Sierra J, et al. Chemical modifications of G418 (geneticin): Synthesis of novel readthrough aminoglycosides results in an improved in vitro safety window but no improvements in vivo. Carbohydr Res. 2020;495:108058.
Google Scholar
Richardson R, Smart M, Tracey-White D, Webster AR, Moosajee M. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders. Exp Eye Res. 2017;155:24–37.
Google Scholar
Popp MW, Maquat LE. Leveraging rules of nonsense-mediated mRNA decay for genome engineering and personalized medicine. Cell. 2016;165:1319–22.
Google Scholar
Manuvakhova M, Keeling K, Bedwell DM. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA. 2000;6:1044–55.
Google Scholar
Floquet C, Rousset JP, Bidou L. [Allele-specific therapy: suppression of nonsense mutations by readthrough inducers]. Med Sci (Paris). 2012;28:193–9.
Google Scholar
Benhabiles H, Gonzalez-Hilarion S, Amand S, Bailly C, Prevotat A, Reix P, et al. Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases. PLoS One. 2017;12:e0187930.
Google Scholar
