Wang, D., Tai, P. W. L. & Gao, G. Adeno-associated virus vector as a platform for gene remedy supply. Nat. Rev. Drug Discov. 18, 358–378 (2019).
Li, C. & Samulski, R. J. Engineering adeno-associated virus vectors for gene remedy. Nat. Rev. Genet. 21, 255–272 (2020).
Mendell, J. R. et al. Present medical purposes of in vivo gene remedy with AAVs. Mol. Ther. 29, 464–488 (2020).
Hordeaux, J. et al. Adeno-associated virus-induced dorsal root ganglion pathology. Hum. Gene Ther. 31, 808–818 (2020).
Van Alstyne, M. et al. Acquire of poisonous operate by long-term AAV9-mediated SMN overexpression within the sensorimotor circuit. Nat. Neurosci. 24, 930–940 (2021).
Golebiowski, D. et al. Direct intracranial injection of AAVrh8 encoding monkey β-N-acetylhexosaminidase causes neurotoxicity within the primate mind. Hum. Gene Ther. 28, 510–522 (2017).
Wang, D., Zhang, F. & Gao, G. CRISPR-based therapeutic genome modifying: methods and in vivo supply by AAV vectors. Cell 181, 136–150 (2020).
Chang, J. C., Temple, G. F., Trecartin, R. F. & Kan, Y. W. Suppression of the nonsense mutation in homozygous β0 thalassaemia. Nature 281, 602–603 (1979).
Temple, G. F., Dozy, A. M., Roy, Ok. L. & Kan, Y. W. Building of a purposeful human suppressor tRNA gene: an method to gene remedy for β-thalassaemia. Nature 296, 537–540 (1982).
Porter, J. J., Heil, C. S. & Lueck, J. D. Therapeutic promise of engineered nonsense suppressor tRNAs. Wiley Interdiscip. Rev. RNA. 12, e1641 (2021).
Wang, D. et al. Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA–W402X mutation. Mol. Genet. Metab. 99, 62–71 (2010).
Larger, B. W., Begley, D. J., Virgintino, D. & Pshezhetsky, A. V. Anatomical adjustments and pathophysiology of the mind in mucopolysaccharidosis problems. Mol. Genet. Metab. 125, 322–331 (2018).
Hampe, C. S. et al. Mucopolysaccharidosis sort I: present remedies, limitations, and prospects for enchancment. Biomolecules 11, 189 (2021).
Ingolia, N. T., Ghaemmaghami, S., Newman, J. R. & Weissman, J. S. Genome-wide evaluation in vivo of translation with nucleotide decision utilizing ribosome profiling. Science 324, 218–223 (2009).
Wangen, J. R. & Inexperienced, R. Cease codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides. eLife. 9, e52611 (2020).
Behrens, A., Rodschinka, G. & Nedialkova, D. D. Excessive-resolution quantitative profiling of tRNA abundance and modification standing in eukaryotes by mim-tRNAseq. Mol. Cell 81, 1802–1815.e7 (2021).
Koukuntla, R., Ramsey, W. J., Younger, W. B. & Hyperlink, C. J. U6 promoter-enhanced GlnUAG suppressor tRNA has larger suppression efficacy and could be stably expressed in 293 cells. J. Gene Med. 15, 93–101 (2013).
Keeling, Ok. M., Xue, X., Gunn, G. & Bedwell, D. M. Therapeutics primarily based on cease codon readthrough. Annu. Rev. Genomics Hum. Genet. 15, 371–394 (2014).
Manuvakhova, M., Keeling, Ok. & Bedwell, D. M. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 6, 1044–1055 (2000).
Phillips-Jones, M. Ok., Hill, L. S., Atkinson, J. & Martin, R. Context results on misreading and suppression at UAG codons in human cells. Mol. Cell. Biol. 15, 6593–6600 (1995).
Roy, B. et al. Ataluren stimulates ribosomal number of near-cognate tRNAs to advertise nonsense suppression. Proc. Natl Acad. Sci. USA 113, 12508–12513 (2016).
Xue, X. et al. Identification of the amino acids inserted throughout suppression of CFTR nonsense mutations and willpower of their purposeful penalties. Hum. Mol. Genet. 26, 3116–3129 (2017).
Lueck, J. D. et al. Engineered switch RNAs for suppression of untimely termination codons. Nat. Commun. 10, 822 (2019).
Giege, R., Sissler, M. & Florentz, C. Common guidelines and idiosyncratic options in tRNA id. Nucleic Acids Res. 26, 5017–5035 (1998).
Bunge, S. et al. Genotype–phenotype correlations in mucopolysaccharidosis sort I utilizing enzyme kinetics, immunoquantification and in vitro turnover research. Biochim. Biophys. Acta 1407, 249–256 (1998).
Oussoren, E. et al. Residual α-l-iduronidase exercise in fibroblasts of gentle to extreme mucopolysaccharidosis sort I sufferers. Mol. Genet. Metab. 109, 377–381 (2013).
Parker, D. J. et al. Development-optimized aminoacyl-tRNA synthetase ranges stop maximal tRNA charging. Cell Syst. 11, 121–130.e6 (2020).
Hinnebusch, A. G. Translational regulation of GCN4 and the final amino acid management of yeast. Annu. Rev. Microbiol. 59, 407–450 (2005).
Buvoli, M., Buvoli, A. & Leinwand, L. A. Suppression of nonsense mutations in cell tradition and mice by multimerized suppressor tRNA genes. Mol. Cell. Biol. 20, 3116–3124 (2000).
Xie, J. et al. Quick DNA hairpins compromise recombinant adeno-associated virus genome homogeneity. Mol. Ther. 25, 1363–1374 (2017).
Davidoff, A. M., Ng, C. Y., Zhou, J., Spence, Y. & Nathwani, A. C. Intercourse considerably influences transduction of murine liver by recombinant adeno-associated viral vectors via an androgen-dependent pathway. Blood 102, 480–488 (2003).
Keeling, Ok. M. et al. Leaky termination at untimely cease codons antagonizes nonsense-mediated mRNA decay in S. cerevisiae. RNA 10, 691–703 (2004).
Kim, Y. Ok., Furic, L., Desgroseillers, L. & Maquat, L. E. Mammalian Staufen1 recruits Upf1 to particular mRNA 3′UTRs in order to elicit mRNA decay. Cell 120, 195–208 (2005).
Maquat, L. E., Tarn, W. Y. & Isken, O. The pioneer spherical of translation: options and features. Cell 142, 368–374 (2010).
van Tol, H. & Beier, H. All human tRNATyr genes include introns as a prerequisite for pseudouridine biosynthesis within the anticodon. Nucleic Acids Res. 16, 1951–1966 (1988).
Dong, J., Qiu, H., Garcia-Barrio, M., Anderson, J. & Hinnebusch, A. G. Uncharged tRNA prompts GCN2 by displacing the protein kinase moiety from a bipartite tRNA-binding area. Mol. Cell 6, 269–279 (2000).
Fechter, P., Rudinger-Thirion, J., Theobald-Dietrich, A. & Giege, R. Id of tRNA for yeast tyrosyl-tRNA synthetase: tyrosylation is extra delicate to id nucleotides than to structural options. Biochemistry 39, 1725–1733 (2000).
Kurosaki, T., Popp, M. W. & Maquat, L. E. High quality and amount management of gene expression by nonsense-mediated mRNA decay. Nat. Rev. Mol. Cell Biol. 20, 406–420 (2019).
Colombo, M., Karousis, E. D., Bourquin, J., Bruggmann, R. & Muhlemann, O. Transcriptome-wide identification of NMD-targeted human mRNAs reveals intensive redundancy between SMG6- and SMG7-mediated degradation pathways. RNA 23, 189–201 (2017).
Huang, L. et al. Concentrating on translation termination equipment with antisense oligonucleotides for illnesses attributable to nonsense mutations. Nucleic Acid Ther. 29, 175–186 (2019).
Wang, J. et al. In vivo supply of suppressor tRNA overcomes a pathogenic nonsense mutation in mice. Mol. Ther. 29, S128 (2021).
Chan, Ok. Y. et al. Engineered AAVs for environment friendly noninvasive gene supply to the central and peripheral nervous methods. Nat. Neurosci. 20, 1172–1179 (2017).
Moreno, A. M. et al. Immune-orthogonal orthologues of AAV capsids and of Cas9 circumvent the immune response to the administration of gene remedy. Nat. Biomed. Eng. 3, 806–816 (2019).
Li, A. et al. AAV-CRISPR gene modifying is negated by pre-existing immunity to Cas9. Mol. Ther. 28, 1432–1441 (2020).
Gadalla, Ok. Ok. et al. Improved survival and diminished phenotypic severity following AAV9/MECP2 gene switch to neonatal and juvenile male Mecp2 knockout mice. Mol. Ther. 21, 18–30 (2013).
Kramarski, L. & Arbely, E. Translational read-through promotes aggregation and shapes cease codon id. Nucleic Acids Res. 48, 3747–3760 (2020).
Hashimoto, S., Nobuta, R., Izawa, T. & Inada, T. Translation arrest as a protein high quality management system for aberrant translation of the three′-UTR in mammalian cells. FEBS Lett. 593, 777–787 (2019).
Arribere, J. A. et al. Translation readthrough mitigation. Nature 534, 719–723 (2016).
Lombardi, S. et al. Translational readthrough of GLA nonsense mutations suggests dominant-negative results exerted by the interplay of wild-type and missense variants. RNA Biol. 17, 254–263 (2020).
Kuzmin, D. A. et al. The medical panorama for AAV gene therapies. Nat. Rev. Drug Discov. 20, 173–174 (2021).
Keller, A., Nesvizhskii, A. I., Kolker, E. & Aebersold, R. Empirical statistical mannequin to estimate the accuracy of peptide identifications made by MS/MS and database search. Anal. Chem. 74, 5383–5392 (2002).
Nesvizhskii, A. I., Keller, A., Kolker, E. & Aebersold, R. A statistical mannequin for figuring out proteins by tandem mass spectrometry. Anal. Chem. 75, 4646–4658 (2003).
Ingolia, N. T., Brar, G. A., Rouskin, S., McGeachy, A. M. & Weissman, J. S. The ribosome profiling technique for monitoring translation in vivo by deep sequencing of ribosome-protected mRNA fragments. Nat. Protoc. 7, 1534–1550 (2012).
Dobin, A. et al. STAR: ultrafast common RNA-seq aligner. Bioinformatics 29, 15–21 (2013).
Yukselen, O., Turkyilmaz, O., Ozturk, A. R., Garber, M. & Kucukural, A. DolphinNext: a distributed information processing platform for top throughput genomics. BMC Genomics 21, 310 (2020).
Clarke, L. A. et al. Murine mucopolysaccharidosis sort I: focused disruption of the murine α-l-iduronidase gene. Hum. Mol. Genet. 6, 503–511 (1997).
Wang, D. et al. The designer aminoglycoside NB84 considerably reduces glycosaminoglycan accumulation related to MPS I-H within the Idua–W392X mouse. Mol. Genet. Metab. 105, 116–125 (2012).
Wang, D. et al. Cas9-mediated allelic change repairs compound heterozygous recessive mutations in mice. Nat. Biotechnol. 36, 839–842 (2018).
Crowe, A. R. & Yue, W. Semi-quantitative willpower of protein expression utilizing immunohistochemistry staining and evaluation: an built-in protocol. Bio Protoc. 9, e3465 (2019).
Bolger, A. M., Lohse, M. & Usadel, B. Trimmomatic: a versatile trimmer for Illumina sequence information. Bioinformatics 30, 2114–2120 (2014).
Evans, M. E., Clark, W. C., Zheng, G. & Pan, T. Willpower of tRNA aminoacylation ranges by high-throughput sequencing. Nucleic Acids Res. 45, e133 (2017).