{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T07:06:00Z","timestamp":1782371160877,"version":"3.54.5"},"reference-count":314,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T00:00:00Z","timestamp":1606521600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Neuromuscular disorders are a large group of rare pathologies characterised by skeletal muscle atrophy and weakness, with the common involvement of respiratory and\/or cardiac muscles. These diseases lead to life-long motor deficiencies and specific organ failures, and are, in their worst-case scenarios, life threatening. Amongst other causes, they can be genetically inherited through mutations in more than 500 different genes. In the last 20 years, specific pharmacological treatments have been approved for human usage. However, these \u201c\u00e0-la-carte\u201d therapies cover only a very small portion of the clinical needs and are often partially efficient in alleviating the symptoms of the disease, even less so in curing it. Recombinant adeno-associated virus vector-mediated gene transfer is a more general strategy that could be adapted for a large majority of these diseases and has proved very efficient in rescuing the symptoms in many neuropathological animal models. On this solid ground, several clinical trials are currently being conducted with the whole-body delivery of the therapeutic vectors. This review recapitulates the state-of-the-art tools for neuron and muscle-targeted gene therapy, and summarises the main findings of the spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD) and X-linked myotubular myopathy (XLMTM) trials. Despite promising efficacy results, serious adverse events of various severities were observed in these trials. Possible leads for second-generation products are also discussed.<\/jats:p>","DOI":"10.3390\/jpm10040258","type":"journal-article","created":{"date-parts":[[2020,11,29]],"date-time":"2020-11-29T21:00:57Z","timestamp":1606683657000},"page":"258","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back"],"prefix":"10.3390","volume":"10","author":[{"given":"Laurine","family":"Buscara","sequence":"first","affiliation":[{"name":"Genethon, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6688-9816","authenticated-orcid":false,"given":"David-Alexandre","family":"Gross","sequence":"additional","affiliation":[{"name":"Genethon, 91000 Evry, France"},{"name":"Universit\u00e9 Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare Research Unit UMR_S951, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7985-2788","authenticated-orcid":false,"given":"Nathalie","family":"Daniele","sequence":"additional","affiliation":[{"name":"Genethon, 91000 Evry, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"7905","DOI":"10.4081\/ejtm.2018.7905","article-title":"Myokines in Home-Based Functional Electrical Stimulation-Induced Recovery of Skeletal Muscle in Elderly and Permanent Denervation","volume":"28","author":"Sajer","year":"2018","journal-title":"Eur. J. Transl. Myol."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Kern, H., and Carraro, U. (2020). Home-Based Functional Electrical Stimulation of Human Permanent Denervated Muscles: A Narrative Review on Diagnostics, Managements, Results and Byproducts Revisited 2020. Diagnostics, 10.","DOI":"10.3390\/diagnostics10080529"},{"key":"ref_3","first-page":"8826","article-title":"Thirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days","volume":"30","author":"Carraro","year":"2020","journal-title":"Eur. J. Transl. Myol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Sarabon, N., Kozinc, Z., Lofler, S., and Hofer, C. (2020). Resistance Exercise, Electrical Muscle Stimulation, and Whole-Body Vibration in Older Adults: Systematic Review and Meta-Analysis of Randomized Controlled Trials. J. Clin. Med., 9.","DOI":"10.3390\/jcm9092902"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1016\/j.nmd.2019.10.010","article-title":"The 2020 version of the gene table of neuromuscular disorders (nuclear genome)","volume":"29","author":"Benarroch","year":"2019","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"400","DOI":"10.2174\/157015911796558000","article-title":"Autoimmune neuromuscular disorders","volume":"9","author":"Kraker","year":"2011","journal-title":"Curr. Neuropharmacol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Herbelet, S., Rodenbach, A., Paepe, B., and De Bleecker, J.L. (2020). Anti-Inflammatory and General Glucocorticoid Physiology in Skeletal Muscles Affected by Duchenne Muscular Dystrophy: Exploration of Steroid-Sparing Agents. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21134596"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.braindev.2016.04.001","article-title":"Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan","volume":"38","author":"Goto","year":"2016","journal-title":"Brain Dev."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.nmd.2006.01.010","article-title":"Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade","volume":"16","author":"Biggar","year":"2006","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"9641","DOI":"10.1073\/pnas.83.24.9641","article-title":"Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients","volume":"83","author":"Martiniuk","year":"1986","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_11","unstructured":"FDA (2020, November 25). Myozyme Approval Letter, Available online: https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/nda\/2006\/125141s0000_Myozyme_Approv.pdf."},{"key":"ref_12","unstructured":"EMA (2020, November 25). Myozyme Alglucosidase Alfa. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/overview\/myozyme-epar-summary-public_en.pdf."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/01.wnl.0000251268.41188.04","article-title":"Recombinant human acid [alpha]-glucosidase: Major clinical benefits in infantile-onset Pompe disease","volume":"68","author":"Kishnani","year":"2007","journal-title":"Neurology"},{"key":"ref_14","first-page":"210","article-title":"Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease","volume":"11","author":"Nicolino","year":"2009","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJMoa0909859","article-title":"A randomized study of alglucosidase alfa in late-onset Pompe\u2019s disease","volume":"362","author":"Clemens","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_16","first-page":"1284","article-title":"Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study","volume":"20","author":"Hahn","year":"2018","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_17","unstructured":"FDA (2020, November 25). FDA Grants Accelerated Approval to First Drug for Duchenne Muscular Dystrophy, Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-grants-accelerated-approval-first-drug-duchenne-muscular-dystrophy."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/343180a0","article-title":"Very mild muscular dystrophy associated with the deletion of 46% of dystrophin","volume":"343","author":"England","year":"1990","journal-title":"Nature"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"e2146","DOI":"10.1212\/WNL.0000000000005680","article-title":"Eteplirsen treatment for Duchenne muscular dystrophy: Exon skipping and dystrophin production","volume":"90","author":"Charleston","year":"2018","journal-title":"Neurology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/ana.23982","article-title":"Eteplirsen for the treatment of Duchenne muscular dystrophy","volume":"74","author":"Mendell","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ana.24555","article-title":"Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy","volume":"79","author":"Mendell","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e15858","DOI":"10.1097\/MD.0000000000015858","article-title":"Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy","volume":"98","author":"Alfano","year":"2019","journal-title":"Medicine"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3233\/JND-170272","article-title":"Long-Term Pulmonary Function in Duchenne Muscular Dystrophy: Comparison of Eteplirsen-Treated Patients to Natural History","volume":"5","author":"Kinane","year":"2018","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"213","DOI":"10.3233\/JND-180351","article-title":"Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy","volume":"6","author":"Khan","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_26","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_27","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","article-title":"Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): A multicentre, randomised, double-blind, placebo-controlled, phase 3 trial","volume":"390","author":"McDonald","year":"2017","journal-title":"Lancet"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"341","DOI":"10.2217\/cer-2019-0171","article-title":"Safety and effectiveness of ataluren: Comparison of results from the STRIDE Registry and CINRG DMD Natural History Study","volume":"9","author":"Mercuri","year":"2020","journal-title":"J. Comp. Eff. Res."},{"key":"ref_29","unstructured":"FDA (2020, November 25). FDA Approves First Drug for Spinal Muscular Atrophy, Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-first-drug-spinal-muscular-atrophy."},{"key":"ref_30","unstructured":"EMA (2020, November 25). First Medicine for Spinal Muscular Atrophy. Available online: https:\/\/www.ema.europa.eu\/en\/news\/first-medicine-spinal-muscular-atrophy."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.nmd.2019.09.007","article-title":"Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study","volume":"29","author":"Bertini","year":"2019","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_34","unstructured":"FDA (2020, November 25). FDA Approves Oral Treatment for Spinal Muscular Atrophy, Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-oral-treatment-spinal-muscular-atrophy."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"e00447","DOI":"10.1002\/prp2.447","article-title":"Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs","volume":"6","author":"Poirier","year":"2018","journal-title":"Pharmacol. Res. Perspect."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"6501","DOI":"10.1021\/acs.jmedchem.8b00741","article-title":"Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)","volume":"61","author":"Ratni","year":"2018","journal-title":"J. Med. Chem."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/bcp.13786","article-title":"A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier","volume":"85","author":"Sturm","year":"2019","journal-title":"Br. J. Clin. Pharmacol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/gt.2012.43","article-title":"Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: An open-label trial","volume":"20","author":"Gaudet","year":"2013","journal-title":"Gene Ther."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1038\/mt.2012.194","article-title":"Endgame: Glybera finally recommended for approval as the first gene therapy drug in the European union","volume":"20","year":"2012","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/S0140-6736(17)31868-8","article-title":"Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial","volume":"390","author":"Russell","year":"2017","journal-title":"Lancet"},{"key":"ref_41","unstructured":"FDA (2020, November 25). FDA Approves Novel Gene Therapy to Treat Patients with a Rare Form of Inherited Vision Loss, Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-novel-gene-therapy-treat-patients-rare-form-inherited-vision-loss."},{"key":"ref_42","unstructured":"EMA (2020, November 25). New Gene Therapy for Rare Inherited Disorder Causing Vision Loss Recommended for Approval. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/press-release\/new-gene-therapy-rare-inherited-disorder-causing-vision-loss-recommended-approval_en.pdf."},{"key":"ref_43","unstructured":"FDA (2020, November 25). FDA Approves Innovative Gene Therapy to Treat Pediatric Patients with Spinal Muscular Atrophy, a Rare Disease and Leading Genetic Cause of Infant Mortality, Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_45","unstructured":"EMA (2020, November 25). New Gene Therapy to Treat Spinal Muscular Atrophy (Corrected). Available online: https:\/\/www.ema.europa.eu\/en\/news\/new-gene-therapy-treat-spinal-muscular-atrophy-corrected."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"10220","DOI":"10.1073\/pnas.1001673107","article-title":"A viral assembly factor promotes AAV2 capsid formation in the nucleolus","volume":"107","author":"Sonntag","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1126\/science.aaw2900","article-title":"Comprehensive AAV capsid fitness landscape reveals a viral gene and enables machine-guided design","volume":"366","author":"Ogden","year":"2019","journal-title":"Science"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"8915","DOI":"10.1073\/pnas.91.19.8915","article-title":"Adeno-associated virus vectors preferentially transduce cells in S phase","volume":"91","author":"Russell","year":"1994","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1126\/science.149.3685.754","article-title":"Adenovirus-Associated Defective Virus Particles","volume":"149","author":"Atchison","year":"1965","journal-title":"Science"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1073\/pnas.55.6.1467","article-title":"Studies of small DNA viruses found in various adenovirus preparations: Physical, biological, and immunological characteristics","volume":"55","author":"Hoggan","year":"1966","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1128\/jvi.1.5.980-987.1967","article-title":"Physicochemical characterization of adeno-associated satellite virus type 4 and its nucleic acid","volume":"1","author":"Parks","year":"1967","journal-title":"J. Virol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/0042-6822(84)90271-X","article-title":"Characterization of the DNA of a defective human parvovirus isolated from a genital site","volume":"134","year":"1984","journal-title":"Virology"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1128\/JVI.72.1.309-319.1998","article-title":"Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2","volume":"72","author":"Rutledge","year":"1998","journal-title":"J. Virol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"11854","DOI":"10.1073\/pnas.182412299","article-title":"Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy","volume":"99","author":"Gao","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"6381","DOI":"10.1128\/JVI.78.12.6381-6388.2004","article-title":"Clades of Adeno-associated viruses are widely disseminated in human tissues","volume":"78","author":"Gao","year":"2004","journal-title":"J. Virol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.virol.2004.10.012","article-title":"Two novel adeno-associated viruses from cynomolgus monkey: Pseudotyping characterization of capsid protein","volume":"330","author":"Mori","year":"2004","journal-title":"Virology"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1128\/JVI.02012-07","article-title":"Adeno-associated virus type 12 (AAV12): A novel AAV serotype with sialic acid- and heparan sulfate proteoglycan-independent transduction activity","volume":"82","author":"Schmidt","year":"2008","journal-title":"J. Virol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"8911","DOI":"10.1128\/JVI.00672-08","article-title":"Molecular characterization of the heparin-dependent transduction domain on the capsid of a novel adeno-associated virus isolate, AAV(VR-942)","volume":"82","author":"Schmidt","year":"2008","journal-title":"J. Virol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"285","DOI":"10.2174\/1566523054065057","article-title":"New recombinant serotypes of AAV vectors","volume":"5","author":"Gao","year":"2005","journal-title":"Curr. Gene Ther."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/978-1-61779-370-7_4","article-title":"Exploiting natural diversity of AAV for the design of vectors with novel properties","volume":"807","author":"Gao","year":"2011","journal-title":"Methods Mol. Biol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"6947","DOI":"10.1128\/JVI.07232-11","article-title":"Structural insight into the unique properties of adeno-associated virus serotype 9","volume":"86","author":"DiMattia","year":"2012","journal-title":"J. Virol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1086\/595830","article-title":"Worldwide epidemiology of neutralizing antibodies to adeno-associated viruses","volume":"199","author":"Calcedo","year":"2009","journal-title":"J. Infect. Dis."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"341","DOI":"10.3389\/fimmu.2013.00341","article-title":"Humoral Immune Response to AAV","volume":"4","author":"Calcedo","year":"2013","journal-title":"Front. Immunol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1089\/hum.2009.182","article-title":"Prevalence of serum IgG and neutralizing factors against adeno-associated virus (AAV) types 1, 2, 5, 6, 8, and 9 in the healthy population: Implications for gene therapy using AAV vectors","volume":"21","author":"Boutin","year":"2010","journal-title":"Hum. Gene Ther."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1128\/JVI.72.2.1438-1445.1998","article-title":"Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions","volume":"72","author":"Summerford","year":"1998","journal-title":"J. Virol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"2991","DOI":"10.1128\/JVI.03371-13","article-title":"Differential adeno-associated virus serotype-specific interaction patterns with synthetic heparins and other glycans","volume":"88","author":"Mietzsch","year":"2014","journal-title":"J. Virol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"20610","DOI":"10.1074\/jbc.M101559200","article-title":"Binding of adeno-associated virus type 5 to 2,3-linked sialic acid is required for gene transfer","volume":"276","author":"Walters","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"6884","DOI":"10.1128\/JVI.75.15.6884-6893.2001","article-title":"Adeno-associated virus serotype 4 (AAV4) and AAV5 both require sialic acid binding for hemagglutination and efficient transduction but differ in sialic acid linkage specificity","volume":"75","author":"Kaludov","year":"2001","journal-title":"J. Virol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"9093","DOI":"10.1128\/JVI.00895-06","article-title":"Alpha2,3 and alpha2,6 N-linked sialic acids facilitate efficient binding and transduction by adeno-associated virus types 1 and 6","volume":"80","author":"Wu","year":"2006","journal-title":"J. Virol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"13532","DOI":"10.1074\/jbc.M110.210922","article-title":"Terminal N-linked galactose is the primary receptor for adeno-associated virus 9","volume":"286","author":"Shen","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"2427","DOI":"10.1172\/JCI57367","article-title":"The AAV9 receptor and its modification to improve In Vivo lung gene transfer in mice","volume":"121","author":"Bell","year":"2011","journal-title":"J. Clin. Investig."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"7326","DOI":"10.1128\/JVI.00448-12","article-title":"Identification of the galactose binding domain of the adeno-associated virus serotype 9 capsid","volume":"86","author":"Bell","year":"2012","journal-title":"J. Virol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1038\/nm929","article-title":"Identification of PDGFR as a receptor for AAV-5 transduction","volume":"9","author":"Davidson","year":"2003","journal-title":"Nat. Med."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"9831","DOI":"10.1128\/JVI.00878-06","article-title":"The 37\/67-kilodalton laminin receptor is a receptor for adeno-associated virus serotypes 8, 2, 3, and 9","volume":"80","author":"Akache","year":"2006","journal-title":"J. Virol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1128\/JVI.79.1.609-614.2005","article-title":"Hepatocyte growth factor receptor is a coreceptor for adeno-associated virus type 2 infection","volume":"79","author":"Kashiwakura","year":"2005","journal-title":"J. Virol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/4768","article-title":"AlphaVbeta5 integrin: A co-receptor for adeno-associated virus type 2 infection","volume":"5","author":"Summerford","year":"1999","journal-title":"Nat. Med."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/4758","article-title":"Human fibroblast growth factor receptor 1 is a co-receptor for infection by adeno-associated virus 2","volume":"5","author":"Qing","year":"1999","journal-title":"Nat. Med."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1038\/nature19835","article-title":"Corrigendum: An essential receptor for adeno-associated virus infection","volume":"539","author":"Pillay","year":"2016","journal-title":"Nature"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1038\/nature16465","article-title":"An essential receptor for adeno-associated virus infection","volume":"530","author":"Pillay","year":"2016","journal-title":"Nature"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"10462","DOI":"10.1128\/JVI.00935-12","article-title":"Cytoplasmic trafficking, endosomal escape, and perinuclear accumulation of adeno-associated virus type 2 particles are facilitated by microtubule network","volume":"86","author":"Xiao","year":"2012","journal-title":"J. Virol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1128\/jvi.40.1.241-247.1981","article-title":"Herpes simplex virus types 1 and 2 completely help adenovirus-associated virus replication","volume":"40","author":"Buller","year":"1981","journal-title":"J. Virol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/0042-6822(84)90272-1","article-title":"Analysis of proteins, helper dependence, and seroepidemiology of a new human parvovirus","volume":"134","author":"Biederlack","year":"1984","journal-title":"Virology"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/0888-7543(91)90470-Y","article-title":"Mapping and direct visualization of a region-specific viral DNA integration site on chromosome 19q13-qter","volume":"10","author":"Kotin","year":"1991","journal-title":"Genomics"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1073\/pnas.87.6.2211","article-title":"Site-specific integration by adeno-associated virus","volume":"87","author":"Kotin","year":"1990","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"3941","DOI":"10.1002\/j.1460-2075.1991.tb04964.x","article-title":"Targeted integration of adeno-associated virus (AAV) into human chromosome 19","volume":"10","author":"Samulski","year":"1991","journal-title":"EMBO J."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"5071","DOI":"10.1002\/j.1460-2075.1992.tb05614.x","article-title":"Characterization of a preferred site on human chromosome 19q for integration of adeno-associated virus DNA by non-homologous recombination","volume":"11","author":"Kotin","year":"1992","journal-title":"EMBO J."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"7671","DOI":"10.1128\/JVI.74.16.7671-7677.2000","article-title":"Characteristics of the adeno-associated virus preintegration site in human chromosome 19: Open chromatin conformation and transcription-competent environment","volume":"74","author":"Lamartina","year":"2000","journal-title":"J. Virol."},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Huser, D., Gogol-Doring, A., Lutter, T., Weger, S., Winter, K., Hammer, E.M., Cathomen, T., Reinert, K., and Heilbronn, R. (2010). Integration preferences of wildtype AAV-2 for consensus rep-binding sites at numerous loci in the human genome. PLoS Pathog., 6.","DOI":"10.1371\/journal.ppat.1000985"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/gutjnl-2019-318281","article-title":"Adeno-associated virus in the liver: Natural history and consequences in tumour development","volume":"69","author":"Imbeaud","year":"2020","journal-title":"Gut"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1038\/ng.3389","article-title":"Recurrent AAV2-related insertional mutagenesis in human hepatocellular carcinomas","volume":"47","author":"Nault","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/sj.gt.3301454","article-title":"Recombinant adenovirus expressing adeno-associated virus cap and rep proteins supports production of high-titer recombinant adeno-associated virus","volume":"8","author":"Zhang","year":"2001","journal-title":"Gene Ther."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/ng0598-13","article-title":"The kinetics of rAAV integration in the liver","volume":"19","author":"Miao","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"9451","DOI":"10.1128\/JVI.74.20.9451-9463.2000","article-title":"Recruitment of single-stranded recombinant adeno-associated virus vector genomes and intermolecular recombination are responsible for stable transduction of liver In Vivo","volume":"74","author":"Nakai","year":"2000","journal-title":"J. Virol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"6969","DOI":"10.1128\/JVI.75.15.6969-6976.2001","article-title":"Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction In Vivo","volume":"75","author":"Nakai","year":"2001","journal-title":"J. Virol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/nm0397-306","article-title":"Recombinant adeno-associated virus for muscle directed gene therapy","volume":"3","author":"Fisher","year":"1997","journal-title":"Nat. Med."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"8429","DOI":"10.1128\/jvi.71.11.8429-8436.1997","article-title":"Adeno-associated virus vector integration junctions","volume":"71","author":"Rutledge","year":"1997","journal-title":"J. Virol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"5438","DOI":"10.1128\/JVI.73.7.5438-5447.1999","article-title":"Isolation of recombinant adeno-associated virus vector-cellular DNA junctions from mouse liver","volume":"73","author":"Nakai","year":"1999","journal-title":"J. Virol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/ng1179","article-title":"AAV serotype 2 vectors preferentially integrate into active genes in mice","volume":"34","author":"Nakai","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"11434","DOI":"10.1128\/JVI.79.17.11434-11442.2005","article-title":"Large-scale analysis of adeno-associated virus vector integration sites in normal human cells","volume":"79","author":"Miller","year":"2005","journal-title":"J. Virol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"3606","DOI":"10.1128\/JVI.79.6.3606-3614.2005","article-title":"Large-scale molecular characterization of adeno-associated virus vector integration in mouse liver","volume":"79","author":"Nakai","year":"2005","journal-title":"J. Virol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"11290","DOI":"10.1128\/JVI.00963-07","article-title":"DNA palindromes with a modest arm length of greater, similar 20 base pairs are a significant target for recombinant adeno-associated virus vector integration in the liver, muscles, and heart in mice","volume":"81","author":"Inagaki","year":"2007","journal-title":"J. Virol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/ng824","article-title":"Chromosomal effects of adeno-associated virus vector integration","volume":"30","author":"Miller","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"9231","DOI":"10.1128\/jvi.71.12.9231-9247.1997","article-title":"Cellular recombination pathways and viral terminal repeat hairpin structures are sufficient for adeno-associated virus integration In Vivo and in vitro","volume":"71","author":"Yang","year":"1997","journal-title":"J. Virol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1172\/JCI79213","article-title":"Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy","volume":"125","author":"Chandler","year":"2015","journal-title":"J. Clin. Investig."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1126\/science.1142658","article-title":"AAV vector integration sites in mouse hepatocellular carcinoma","volume":"317","author":"Donsante","year":"2007","journal-title":"Science"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"3311","DOI":"10.1182\/blood-2010-08-302729","article-title":"Assessing the potential for AAV vector genotoxicity in a murine model","volume":"117","author":"Li","year":"2011","journal-title":"Blood"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/ng1094-148","article-title":"Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain","volume":"8","author":"Kaplitt","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1089\/10430340050015716","article-title":"The use of adeno-associated virus to circumvent the maturation-dependent viral transduction of muscle fibers","volume":"11","author":"Pruchnic","year":"2000","journal-title":"Hum. Gene Ther."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/nm1358","article-title":"Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response","volume":"12","author":"Manno","year":"2006","journal-title":"Nat. Med."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/mt.2008.76","article-title":"Analysis of AAV serotypes 1-9 mediated gene expression and tropism in mice after systemic injection","volume":"16","author":"Zincarelli","year":"2008","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.expneurol.2005.03.007","article-title":"AAV2-mediated gene delivery to monkey putamen: Evaluation of an infusion device and delivery parameters","volume":"194","author":"Sanftner","year":"2005","journal-title":"Exp. Neurol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"3994","DOI":"10.1128\/JVI.73.5.3994-4003.1999","article-title":"Gene therapy vectors based on adeno-associated virus type 1","volume":"73","author":"Xiao","year":"1999","journal-title":"J. Virol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1002\/jgm.686","article-title":"Gene transfer into skeletal muscle using novel AAV serotypes","volume":"7","author":"Louboutin","year":"2005","journal-title":"J. Gene Med."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13395-015-0064-4","article-title":"Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9","volume":"5","author":"Riaz","year":"2015","journal-title":"Skelet. Muscle"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/mt.2008.225","article-title":"Transduction efficiency and immune response associated with the administration of AAV8 vector into dog skeletal muscle","volume":"17","author":"Ohshima","year":"2009","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/nbt1073","article-title":"Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart","volume":"23","author":"Wang","year":"2005","journal-title":"Nat. Biotechnol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1128\/JVI.79.1.214-224.2005","article-title":"Unrestricted hepatocyte transduction with adeno-associated virus serotype 8 vectors in mice","volume":"79","author":"Nakai","year":"2005","journal-title":"J. Virol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ymthe.2006.03.014","article-title":"Robust systemic transduction with AAV9 vectors in mice: Efficient global cardiac gene transfer superior to that of AAV8","volume":"14","author":"Inagaki","year":"2006","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1161\/01.RES.0000237661.18885.f6","article-title":"Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction In Vivo","volume":"99","author":"Pacak","year":"2006","journal-title":"Circ. Res."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1038\/sj.gt.3303029","article-title":"Systemic AAV-9 transduction in mice is influenced by animal age but not by the route of administration","volume":"14","author":"Bostick","year":"2007","journal-title":"Gene Ther."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1479-0556-6-13","article-title":"Tissue specific promoters improve specificity of AAV9 mediated transgene expression following intra-vascular gene delivery in neonatal mice","volume":"6","author":"Pacak","year":"2008","journal-title":"Genet. Vaccines Ther."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1089\/hum.2013.044","article-title":"Long-term robust myocardial transduction of the dog heart from a peripheral vein by adeno-associated virus serotype-8","volume":"24","author":"Pan","year":"2013","journal-title":"Hum. Gene Ther."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1089\/hum.2006.17.427","article-title":"Long-term efficacy of adeno-associated virus serotypes 8 and 9 in hemophilia a dogs and mice","volume":"17","author":"Sarkar","year":"2006","journal-title":"Hum. Gene Ther."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1038\/mt.2008.87","article-title":"Safety and Efficacy of Regional Intravenous (RI) Versus Intramuscular (IM) Delivery of rAAV1 and rAAV8 to Nonhuman Primate Skeletal Muscle","volume":"16","author":"Toromanoff","year":"2008","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1038\/nm1085","article-title":"Systemic delivery of genes to striated muscles using adeno-associated viral vectors","volume":"10","author":"Gregorevic","year":"2004","journal-title":"Nat. Med."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"381","DOI":"10.3389\/fphys.2013.00381","article-title":"Functional muscle ischemia in Duchenne and Becker muscular dystrophy","volume":"4","author":"Thomas","year":"2013","journal-title":"Front. Physiol."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1038\/gt.2013.16","article-title":"Adeno-associated virus serotype 9 efficiently targets ischemic skeletal muscle following systemic delivery","volume":"20","author":"Katwal","year":"2013","journal-title":"Gene Ther."},{"key":"ref_128","doi-asserted-by":"crossref","unstructured":"Arnett, A.L., Konieczny, P., Ramos, J.N., Hall, J., Odom, G., Yablonka-Reuveni, Z., Chamberlain, J.R., and Chamberlain, J.S. (2014). Adeno-associated viral (AAV) vectors do not efficiently target muscle satellite cells. Mol. Ther. Methods Clin. Dev., 1.","DOI":"10.1038\/mtm.2014.38"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.ymthe.2006.05.004","article-title":"Evidence of multiyear factor IX expression by AAV-mediated gene transfer to skeletal muscle in an individual with severe hemophilia B","volume":"14","author":"Jiang","year":"2006","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1089\/hum.2008.123","article-title":"Adeno-associated virus (AAV) serotype 9 provides global cardiac gene transfer superior to AAV1, AAV6, AAV7, and AAV8 in the mouse and rat","volume":"19","author":"Bish","year":"2008","journal-title":"Hum. Gene Ther."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1111\/j.1538-7836.2006.02220.x","article-title":"Efficacy and safety of adeno-associated viral vectors based on serotype 8 and 9 vs. lentiviral vectors for hemophilia B gene therapy","volume":"5","author":"Vandendriessche","year":"2007","journal-title":"J. Thromb. Haemost."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1752-8062.2010.00190.x","article-title":"Comparative cardiac gene delivery of adeno-associated virus serotypes 1-9 reveals that AAV6 mediates the most efficient transduction in mouse heart","volume":"3","author":"Zincarelli","year":"2010","journal-title":"Clin. Transl. Sci."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"4017","DOI":"10.4161\/cc.8.24.10245","article-title":"Over the barrier and through the blood: To CNS delivery we go","volume":"8","author":"Foust","year":"2009","journal-title":"Cell Cycle"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nbt.1515","article-title":"Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes","volume":"27","author":"Foust","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1038\/mt.2011.72","article-title":"Preclinical differences of intravascular AAV9 delivery to neurons and glia: A comparative study of adult mice and nonhuman primates","volume":"19","author":"Gray","year":"2011","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1089\/hum.2011.200","article-title":"Adeno-associated virus serotype 9 transduction in the central nervous system of nonhuman primates","volume":"23","author":"Samaranch","year":"2012","journal-title":"Hum. Gene Ther."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1038\/mt.2009.71","article-title":"Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons","volume":"17","author":"Duque","year":"2009","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1038\/mt.2011.157","article-title":"Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders","volume":"19","author":"Bevan","year":"2011","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"5880","DOI":"10.1093\/hmg\/ddv310","article-title":"Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus","volume":"24","author":"Yue","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1038\/mt.2012.283","article-title":"Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy","volume":"21","author":"Shin","year":"2013","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1038\/mt.2010.94","article-title":"Widespread muscle expression of an AAV9 human mini-dystrophin vector after intravenous injection in neonatal dystrophin-deficient dogs","volume":"18","author":"Kornegay","year":"2010","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"1944","DOI":"10.1038\/mt.2008.207","article-title":"A single intravenous injection of adeno-associated virus serotype-9 leads to whole body skeletal muscle transduction in dogs","volume":"16","author":"Yue","year":"2008","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/mt.2014.200","article-title":"A phase 1\/2a follistatin gene therapy trial for becker muscular dystrophy","volume":"23","author":"Mendell","year":"2015","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.ymthe.2017.02.015","article-title":"Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes","volume":"25","author":"Mendell","year":"2017","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1056\/NEJMoa1000228","article-title":"Dystrophin immunity in Duchenne\u2019s muscular dystrophy","volume":"363","author":"Mendell","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/mt.2011.237","article-title":"Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector","volume":"20","author":"Bowles","year":"2012","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1089\/hum.2012.250","article-title":"Phase I\/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: Initial safety and ventilatory outcomes","volume":"24","author":"Smith","year":"2013","journal-title":"Hum. Gene Ther."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/jgm.516","article-title":"Transcriptional silencing is associated with extensive methylation of the CMV promoter following adenoviral gene delivery to muscle","volume":"6","author":"Brooks","year":"2004","journal-title":"J. Gene Med."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1089\/hum.1997.8.17-2019","article-title":"Promoter attenuation in gene therapy: Interferon-gamma and tumor necrosis factor-alpha inhibit transgene expression","volume":"8","author":"Qin","year":"1997","journal-title":"Hum. Gene Ther."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.theriogenology.2012.03.027","article-title":"Silencing of fat-1 transgene expression in sheep may result from hypermethylation of its driven cytomegalovirus (CMV) promoter","volume":"78","author":"Duan","year":"2012","journal-title":"Theriogenology"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1089\/hum.1995.6.10-1291","article-title":"Interferon-gamma inhibits transgene expression driven by SV40 or CMV promoters but augments expression driven by the mammalian MHC I promoter","volume":"6","author":"Harms","year":"1995","journal-title":"Hum. Gene Ther."},{"key":"ref_152","doi-asserted-by":"crossref","unstructured":"Qin, J.Y., Zhang, L., Clift, K.L., Hulur, I., Xiang, A.P., Ren, B.Z., and Lahn, B.T. (2010). Systematic comparison of constitutive promoters and the doxycycline-inducible promoter. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0010611"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/ppul.24203","article-title":"Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy","volume":"54","author":"Pickard","year":"2019","journal-title":"Pediatr. Pulmonol."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"307","DOI":"10.3233\/JND-190403","article-title":"AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort","volume":"6","author":"Kolb","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1007\/s12325-019-00923-8","article-title":"Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1","volume":"36","author":"Dabbous","year":"2019","journal-title":"Adv. Ther."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.pediatrneurol.2019.05.005","article-title":"Impact of Age and Motor Function in a Phase 1\/2A Study of Infants with SMA Type 1 Receiving Single-Dose Gene Replacement Therapy","volume":"98","author":"Lowes","year":"2019","journal-title":"Pediatr. Neurol."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1006\/mthe.2001.0496","article-title":"Immune evasion by muscle-specific gene expression in dystrophic muscle","volume":"4","author":"Kirk","year":"2001","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1038\/sj.gt.3301829","article-title":"Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product","volume":"9","author":"Yuasa","year":"2002","journal-title":"Gene Ther."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1038\/sj.gt.3301602","article-title":"Designing gene therapy vectors: Avoiding immune responses by using tissue-specific promoters","volume":"8","author":"Weeratna","year":"2001","journal-title":"Gene Ther."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1002\/jgm.878","article-title":"Comparison of promoter region constructs for In Vivo intramuscular expression","volume":"8","author":"Fabre","year":"2006","journal-title":"J. Gene Med."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/mt.2009.267","article-title":"Desmin-regulated lentiviral vectors for skeletal muscle gene transfer","volume":"18","author":"Talbot","year":"2010","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"18979","DOI":"10.1074\/jbc.M201257200","article-title":"Cardiomyocyte-specific gene expression following recombinant adeno-associated viral vector transduction","volume":"277","author":"Aikawa","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"220ra210","DOI":"10.1126\/scitranslmed.3007523","article-title":"Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy","volume":"6","author":"Childers","year":"2014","journal-title":"Sci. Transl. Med."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/WNL.94.15_supplement.1053","article-title":"ASPIRO Gene Therapy Trial In X-Linked Myotubular Myopathy (XLMTM): Update on Preliminary Safety And Efficacy Findings up to 72 Weeks Post-Treatment (1053)","volume":"94","author":"Shieh","year":"2020","journal-title":"Neurology"},{"key":"ref_165","first-page":"2753","article-title":"Multiple regulatory elements contribute differentially to muscle creatine kinase enhancer activity in skeletal and cardiac muscle","volume":"13","author":"Amacher","year":"1993","journal-title":"Mol. Cell. Biol."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1023\/A:1023369225799","article-title":"Transgenic and tissue culture analyses of the muscle creatine kinase enhancer Trex control element in skeletal and cardiac muscle indicate differences in gene expression between muscle types","volume":"12","author":"Nguyen","year":"2003","journal-title":"Transgenic Res."},{"key":"ref_167","first-page":"2855","article-title":"Transcriptional regulation of the muscle creatine kinase gene and regulated expression in transfected mouse myoblasts","volume":"6","author":"Jaynes","year":"1986","journal-title":"Mol. Cell. Biol."},{"key":"ref_168","first-page":"309","article-title":"Muscle creatine kinase\/SV40 hybrid promoter for muscle-targeted long-term transgene expression","volume":"19","author":"Takeshita","year":"2007","journal-title":"Int. J. Mol. Med."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1006\/mthe.2000.0089","article-title":"Analysis of muscle creatine kinase regulatory elements in recombinant adenoviral vectors","volume":"2","author":"Hauser","year":"2000","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1038\/gt.2008.104","article-title":"Construction and analysis of compact muscle-specific promoters for AAV vectors","volume":"15","author":"Wang","year":"2008","journal-title":"Gene Ther."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/mt.2013.250","article-title":"AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy","volume":"22","author":"Sahenk","year":"2014","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1212\/01.wnl.0000306309.85301.e2","article-title":"Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D","volume":"71","author":"Lee","year":"2008","journal-title":"Neurology"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/ana.22251","article-title":"Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D","volume":"68","author":"Mendell","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1002\/ana.21732","article-title":"Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins","volume":"66","author":"Mendell","year":"2009","journal-title":"Ann. Neurol."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1038\/sj.mt.6300027","article-title":"Design of tissue-specific regulatory cassettes for high-level rAAV-mediated expression in skeletal and cardiac muscle","volume":"15","author":"Salva","year":"2007","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/mt.2008.133","article-title":"Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy","volume":"16","author":"Sun","year":"2008","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_177","doi-asserted-by":"crossref","unstructured":"Mendell, J.R., Sahenk, Z., Lehman, K., Nease, C., Lowes, L.P., Miller, N.F., Iammarino, M.A., Alfano, L.N., Nicholl, A., and Al-Zaidy, S. (2020). Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial. JAMA Neurol.","DOI":"10.1001\/jamaneurol.2020.1484"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/6981","article-title":"Synthetic muscle promoters: Activities exceeding naturally occurring regulatory sequences","volume":"17","author":"Li","year":"1999","journal-title":"Nat. Biotechnol."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1089\/104303401750061267","article-title":"Muscle-specific promoters may be necessary for adeno-associated virus-mediated gene transfer in the treatment of muscular dystrophies","volume":"12","author":"Cordier","year":"2001","journal-title":"Hum. Gene Ther."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/sj.mt.6300022","article-title":"Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector","volume":"15","author":"Fougerousse","year":"2007","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.ymthe.2003.11.015","article-title":"AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice","volume":"9","author":"Ziegler","year":"2004","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.omtm.2019.08.012","article-title":"Role of Regulatory T Cell and Effector T Cell Exhaustion in Liver-Mediated Transgene Tolerance in Muscle","volume":"15","author":"Poupiot","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_183","doi-asserted-by":"crossref","unstructured":"Bartolo, L., Li Chung Tong, S., Chappert, P., Urbain, D., Collaud, F., Colella, P., Richard, I., Ronzitti, G., Demengeot, J., and Gross, D.A. (2019). Dual muscle-liver transduction imposes immune tolerance for muscle transgene engraftment despite preexisting immunity. JCI Insight, 4.","DOI":"10.1172\/jci.insight.127008"},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.omtm.2018.11.002","article-title":"AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice","volume":"12","author":"Colella","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_185","unstructured":"GlobeNewswire (2020, November 25). Solid Biosciences Provides Update Regarding SGT-001 Phase I\/II Clinical Hold on IGNITE DMD. Available online: https:\/\/www.globenewswire.com\/news-release\/2020\/05\/07\/2029328\/0\/en\/Solid-Biosciences-Provides-Update-regarding-SGT-001-Phase-I-II-Clinical-Hold-on-IGNITE-DMD.html."},{"key":"ref_186","unstructured":"GlobeNewswire (2020, November 25). Solid Biosciences Announces Clinical Hold On SGT-001 Phase I\/II Clinical Trial for Duchenne Muscular Dystrophy. Available online: https:\/\/www.globenewswire.com\/news-release\/2018\/03\/14\/1422770\/0\/en\/Solid-Biosciences-Announces-Clinical-Hold-On-SGT-001-Phase-I-II-Clinical-Trial-For-Duchenne-Muscular-Dystrophy.html."},{"key":"ref_187","unstructured":"Binks, M. (2019). Early, Initial Data from C3391001, a First-In-Human Safety Study of PF-06939926, a Mini-Dystrophin Gene Therapy for the Potential Treatment of DMD, Parent Project Muscular Dystrophy."},{"key":"ref_188","unstructured":"Novartis (2020, November 25). AveXis Presents AVXS-101 IT Data Demonstrating Remarkable Increases in HFMSE Scores and a Consistent Clinically Meaningful Response in Older Patients with SMA Type 2. Available online: https:\/\/www.novartis.com\/news\/media-releases\/avexis-presents-avxs-101-it-data-demonstrating-remarkable-increases-hfmse-scores-and-consistent-clinically-meaningful-response-older-patients-sma-type-2."},{"key":"ref_189","unstructured":"Pharma, F. (2020, November 25). Audentes\u2019 Gene Therapy AT132 Hit with FDA Clinical Hold after Second Patient Death. Available online: https:\/\/www.firstwordpharma.com\/node\/1736153."},{"key":"ref_190","first-page":"S1","article-title":"Systemic Gene Transfer with AAVrh74.MHCK7.SGCB Increased \u03b2-sarcoglycan Expression in Patients with Limb Girdle Muscular Dystrophy Type 2E","volume":"50","author":"Pozsgai","year":"2019","journal-title":"Neuropediatrics"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.cell.2008.03.031","article-title":"SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing","volume":"133","author":"Zhang","year":"2008","journal-title":"Cell"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/s13023-017-0613-5","article-title":"Cardiac pathology in spinal muscular atrophy: A systematic review","volume":"12","author":"Wijngaarde","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1038\/mt.2014.210","article-title":"Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: A dose-response study in mice and nonhuman primates","volume":"23","author":"Meyer","year":"2015","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/nbt.1610","article-title":"Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN","volume":"28","author":"Foust","year":"2010","journal-title":"Nat. Biotechnol."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1093\/hmg\/ddq300","article-title":"Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery","volume":"19","author":"Bevan","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/hmg\/ddq514","article-title":"Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice","volume":"20","author":"Dominguez","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"35ra42","DOI":"10.1126\/scitranslmed.3000830","article-title":"Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy","volume":"2","author":"Valori","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1038\/mt.2008.171","article-title":"Self-complementary AAV vectors; advances and applications","volume":"16","author":"McCarty","year":"2008","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1089\/hum.2018.015","article-title":"Severe Toxicity in Nonhuman Primates and Piglets Following High-Dose Intravenous Administration of an Adeno-Associated Virus Vector Expressing Human SMN","volume":"29","author":"Hinderer","year":"2018","journal-title":"Hum. Gene Ther."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ymthe.2018.01.018","article-title":"The Neurotropic Properties of AAV-PHP.B Are Limited to C57BL\/6J Mice","volume":"26","author":"Hordeaux","year":"2018","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"649","DOI":"10.3389\/fimmu.2014.00649","article-title":"Platelets and infection\u2014An emerging role of platelets in viral infection","volume":"5","author":"Assinger","year":"2014","journal-title":"Front. Immunol."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/nm0302-253","article-title":"Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy","volume":"8","author":"Harper","year":"2002","journal-title":"Nat. Med."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1038\/mt.2014.151","article-title":"Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients","volume":"22","author":"Montus","year":"2014","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"2559","DOI":"10.1093\/hmg\/dds082","article-title":"Rescue of severely affected dystrophin\/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping","volume":"21","author":"Goyenvalle","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"1796","DOI":"10.1126\/science.1104297","article-title":"Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping","volume":"306","author":"Goyenvalle","year":"2004","journal-title":"Science"},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1038\/mt.2012.181","article-title":"Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping","volume":"20","author":"Vulin","year":"2012","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/mt.2011.264","article-title":"Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping","volume":"20","author":"Bish","year":"2012","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1038\/gt.2012.38","article-title":"MRI roadmap-guided transendocardial delivery of exon-skipping recombinant adeno-associated virus restores dystrophin expression in a canine model of Duchenne muscular dystrophy","volume":"20","author":"Barbash","year":"2013","journal-title":"Gene Ther."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/nm1439","article-title":"rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice","volume":"12","author":"Gregorevic","year":"2006","journal-title":"Nat. Med."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/mt.2008.28","article-title":"Systemic microdystrophin gene delivery improves skeletal muscle structure and function in old dystrophic mdx mice","volume":"16","author":"Gregorevic","year":"2008","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.omtm.2019.11.015","article-title":"Micro-dystrophin Gene Therapy Partially Enhances Exercise Capacity in Older Adult mdx Mice","volume":"17","author":"Rodgers","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1479-5876-5-45","article-title":"A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy","volume":"5","author":"Janssen","year":"2007","journal-title":"J. Transl. Med."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/mt.2009.254","article-title":"Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery","volume":"18","author":"Montgomery","year":"2010","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.1038\/mt.2008.186","article-title":"Codon and mRNA sequence optimization of microdystrophin transgenes improves expression and physiological outcome in dystrophic mdx mice following AAV2\/8 gene transfer","volume":"16","author":"Foster","year":"2008","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"16105","DOI":"10.1038\/ncomms16105","article-title":"Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy","volume":"8","author":"Servais","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1089\/hum.2008.058","article-title":"Adeno-associated virus serotype-9 microdystrophin gene therapy ameliorates electrocardiographic abnormalities in mdx mice","volume":"19","author":"Bostick","year":"2008","journal-title":"Hum. Gene Ther."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.omtm.2017.06.006","article-title":"A Five-Repeat Micro-Dystrophin Gene Ameliorated Dystrophic Phenotype in the Severe DBA\/2J-mdx Model of Duchenne Muscular Dystrophy","volume":"6","author":"Hakim","year":"2017","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1038\/mt.2011.154","article-title":"AAV-microdystrophin therapy improves cardiac performance in aged female mdx mice","volume":"19","author":"Bostick","year":"2011","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1038\/gt.2011.36","article-title":"Improvement of cardiac fibrosis in dystrophic mice by rAAV9-mediated microdystrophin transduction","volume":"18","author":"Shin","year":"2011","journal-title":"Gene Ther."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.omtm.2020.07.004","article-title":"Micro-dystrophin AAV Vectors Made by Transient Transfection and Herpesvirus System Are Equally Potent in Treating mdx Mouse Muscle Disease","volume":"18","author":"Hakim","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1172\/JCI36612","article-title":"Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy","volume":"119","author":"Lai","year":"2009","journal-title":"J. Clin. Investig."},{"key":"ref_223","first-page":"342","article-title":"Adeno-Associated Virus Serotype rh74 Prevalence in Muscular Dystrophy Population","volume":"27","author":"Griffin","year":"2019","journal-title":"Mol. Ther."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1089\/hum.2016.141","article-title":"Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy","volume":"28","author":"Zygmunt","year":"2017","journal-title":"Hum. Gene Ther."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1089\/humc.2017.109","article-title":"Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy","volume":"28","author":"Fu","year":"2017","journal-title":"Hum. Gene Ther. Clin. Dev."},{"key":"ref_226","unstructured":"Potter, R.A., Griffin, D.A., Heller, K.N., Peterson, E.L., Clark, E.K., Mendell, J.R., and Rodino-Klapac, L.R. (2018, January 16\u201319). Dose-escalation study of systematically delivered rAAVrh74.MHCK7.micro-dystrophin in the mdx mouse model of Duchenne muscular dystrophy. Proceedings of the American Society of Gene and Cell Therapy Annual Meeting, Chicago, IL, USA."},{"key":"ref_227","first-page":"5","article-title":"Dose Escalation Study of Systemically Delivered AAVrh74.MHCK7.Micro-Dystrophin in the Mdx Mouse Model of DMD","volume":"26","author":"Potter","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1089\/hum.2019.006","article-title":"Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion","volume":"30","author":"Mendell","year":"2019","journal-title":"Hum. Gene Ther."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1080\/14712598.2020.1725469","article-title":"Clinical development on the frontier: Gene therapy for duchenne muscular dystrophy","volume":"20","author":"Asher","year":"2020","journal-title":"Expert Opin. Biol. Ther."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1056\/NEJMoa1108046","article-title":"Adenovirus-associated virus vector-mediated gene transfer in hemophilia B","volume":"365","author":"Nathwani","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"2215","DOI":"10.1056\/NEJMoa1708538","article-title":"Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant","volume":"377","author":"George","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_232","unstructured":"Solid Biosciences (2020, November 25). Letter to the Duchenne Community about the Status of the IGNITE DMD Clinical Trial. Available online: https:\/\/www.solidbio.com\/about\/media\/news\/letter-to-the-duchenne-community-about-the-status-of-the-ignite-dmd-clinical-trial."},{"key":"ref_233","unstructured":"Solid Biosciences (2020, November 25). Solid Biosciences Announces FDA Lifts Clinical Hold on IGNITE DMD Clinical Trial. Available online: https:\/\/www.solidbio.com\/about\/media\/press-releases\/solid-biosciences-announces-fda-lifts-clinical-hold-on-ignite-dmd-clinical-trial."},{"key":"ref_234","first-page":"5","article-title":"AAV micro-dystrophin therapy ameliorates muscular dystrophy in young adult Duchenne muscular dystrophy dogs for up to thirty months following injection","volume":"26","author":"Hakim","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_235","first-page":"20143085","article-title":"Evolution of the immune system in humans from infancy to old age","volume":"282","author":"Simon","year":"2015","journal-title":"Proc. Biol. Sci."},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng0696-175","article-title":"A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast","volume":"13","author":"Laporte","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1093\/oxfordjournals.hmg.a018913","article-title":"Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway","volume":"9","author":"Blondeau","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"8910","DOI":"10.1073\/pnas.160255697","article-title":"Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate","volume":"97","author":"Taylor","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"15060","DOI":"10.1073\/pnas.212498399","article-title":"The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice","volume":"99","author":"Laugel","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"14697","DOI":"10.1073\/pnas.1003677107","article-title":"MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers","volume":"107","author":"Beggs","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1002\/mus.23463","article-title":"Muscle function in a canine model of X-linked myotubular myopathy","volume":"46","author":"Grange","year":"2012","journal-title":"Muscle Nerve"},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"2132","DOI":"10.1093\/hmg\/ddn112","article-title":"AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis","volume":"17","author":"Fougerousse","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1002\/mus.25658","article-title":"Long-term effects of systemic gene therapy in a canine model of myotubular myopathy","volume":"56","author":"Elverman","year":"2017","journal-title":"Muscle Nerve"},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ymthe.2017.02.004","article-title":"Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs","volume":"25","author":"Mack","year":"2017","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ymthe.2019.10.018","article-title":"AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy","volume":"28","author":"Dupont","year":"2020","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_246","first-page":"102","article-title":"Nonhuman Primate Safety and Potency of an AAV Vector for XLMTM Produced by Transient Transfection at 500L","volume":"25","author":"Phillips","year":"2017","journal-title":"Mol. Ther."},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"S91","DOI":"10.1016\/j.nmd.2018.06.240","article-title":"ASPIRO phase 1\/2 gene therapy trial In X-linked myotubular myopathy: Preliminary safety and efficacy findings","volume":"28","author":"Kuntz","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_248","first-page":"4","article-title":"ASPIRO phase 1\/2 gene therapy trail in X-linked myotubular myopathy (XLMTM): Preliminary safety and efficacy findings","volume":"26","author":"Kuntz","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_249","first-page":"A2","article-title":"Gene therapy for X-linked myotubular myopathy with AT132 (rAAV8-Des-hMTM1): Preliminary results from the ASPIRO phase-1\/2 study","volume":"27","author":"Kuntz","year":"2018","journal-title":"Hum. Gene Ther."},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ymthe.2020.01.006","article-title":"Adenovirus-Antibody Complexes Contributed to Lethal Systemic Inflammation in a Gene Therapy Trial","volume":"28","author":"Somanathan","year":"2020","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1089\/hum.2020.182","article-title":"Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy","volume":"31","author":"Wilson","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/gt.2015.74","article-title":"AAV ancestral reconstruction library enables selection of broadly infectious viral variants","volume":"22","author":"Ojala","year":"2015","journal-title":"Gene Ther."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/nbt.1599","article-title":"Reengineering a receptor footprint of adeno-associated virus enables selective and systemic gene transfer to muscle","volume":"28","author":"Asokan","year":"2010","journal-title":"Nat. Biotechnol."},{"key":"ref_254","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1038\/gt.2009.59","article-title":"A muscle-targeting peptide displayed on AAV2 improves muscle tropism on systemic delivery","volume":"16","author":"Yu","year":"2009","journal-title":"Gene Ther."},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1038\/gt.2010.44","article-title":"Heart-targeted adeno-associated viral vectors selected by In Vivo biopanning of a random viral display peptide library","volume":"17","author":"Ying","year":"2010","journal-title":"Gene Ther."},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"28814","DOI":"10.1074\/jbc.M113.482380","article-title":"Engraftment of a galactose receptor footprint onto adeno-associated viral capsids improves transduction efficiency","volume":"288","author":"Shen","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_257","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1089\/hum.2016.130","article-title":"Systemic and Persistent Muscle Gene Expression in Rhesus Monkeys with a Liver De-Targeted Adeno-Associated Virus Vector","volume":"28","author":"Tarantal","year":"2017","journal-title":"Hum. Gene Ther."},{"key":"ref_258","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1038\/mt.2011.22","article-title":"Engineering liver-detargeted AAV9 vectors for cardiac and musculoskeletal gene transfer","volume":"19","author":"Pulicherla","year":"2011","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/s41434-019-0106-3","article-title":"Distinct transduction of muscle tissue in mice after systemic delivery of AAVpo1 vectors","volume":"27","author":"Tulalamba","year":"2020","journal-title":"Gene Ther."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1038\/mt.2016.84","article-title":"In Vivo Selection Yields AAV-B1 Capsid for Central Nervous System and Muscle Gene Therapy","volume":"24","author":"Choudhury","year":"2016","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"14002","DOI":"10.1038\/mtm.2014.2","article-title":"Systemic gene transfer reveals distinctive muscle transduction profile of tyrosine mutant AAV-1, -6, and -9 in neonatal dogs","volume":"1","author":"Hakim","year":"2014","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_262","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/978-1-61737-982-6_8","article-title":"Directed evolution of adeno-associated virus (AAV) as vector for muscle gene therapy","volume":"709","author":"Yang","year":"2011","journal-title":"Methods Mol. Biol."},{"key":"ref_263","doi-asserted-by":"crossref","first-page":"3946","DOI":"10.1073\/pnas.0813207106","article-title":"A myocardium tropic adeno-associated virus (AAV) evolved by DNA shuffling and In Vivo selection","volume":"106","author":"Yang","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1089\/hum.2010.003","article-title":"Adeno-associated virus serotype 6 capsid tyrosine-to-phenylalanine mutations improve gene transfer to skeletal muscle","volume":"21","author":"Qiao","year":"2010","journal-title":"Hum. Gene Ther."},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/s41434-019-0081-8","article-title":"Bat adeno-associated viruses as gene therapy vectors with the potential to evade human neutralizing antibodies","volume":"26","author":"Li","year":"2019","journal-title":"Gene Ther."},{"key":"ref_266","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/nbt1182","article-title":"Directed evolution of adeno-associated virus yields enhanced gene delivery vectors","volume":"24","author":"Maheshri","year":"2006","journal-title":"Nat. Biotechnol."},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"E4812","DOI":"10.1073\/pnas.1704766114","article-title":"Structure-guided evolution of antigenically distinct adeno-associated virus variants for immune evasion","volume":"114","author":"Tse","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_268","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/mt.2015.134","article-title":"Development of Patient-specific AAV Vectors After Neutralizing Antibody Selection for Enhanced Muscle Gene Transfer","volume":"24","author":"Li","year":"2016","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_269","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/s41467-018-08283-7","article-title":"Next-generation muscle-directed gene therapy by in silico vector design","volume":"10","author":"Sarcar","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_270","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.omtm.2019.09.001","article-title":"A Muscle Hybrid Promoter as a Novel Tool for Gene Therapy","volume":"15","author":"Piekarowicz","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_271","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.15252\/emmm.201707601","article-title":"Promoterless gene targeting without nucleases rescues lethality of a Crigler-Najjar syndrome mouse model","volume":"9","author":"Porro","year":"2017","journal-title":"EMBO Mol. Med."},{"key":"ref_272","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1038\/nature13864","article-title":"Promoterless gene targeting without nucleases ameliorates haemophilia B in mice","volume":"517","author":"Barzel","year":"2015","journal-title":"Nature"},{"key":"ref_273","first-page":"49","article-title":"Viral expression cassette elements to enhance transgene target specificity and expression in gene therapy","volume":"19","author":"Powell","year":"2015","journal-title":"Discov. Med."},{"key":"ref_274","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/S0092-8674(04)00045-5","article-title":"MicroRNAs: Genomics, biogenesis, mechanism, and function","volume":"116","author":"Bartel","year":"2004","journal-title":"Cell"},{"key":"ref_275","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/0092-8674(93)90529-Y","article-title":"The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14","volume":"75","author":"Lee","year":"1993","journal-title":"Cell"},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"D155","DOI":"10.1093\/nar\/gky1141","article-title":"miRBase: From microRNA sequences to function","volume":"47","author":"Kozomara","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_277","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1261\/rna.804508","article-title":"Systematic evaluation of microRNA processing patterns in tissues, cell lines, and tumors","volume":"14","author":"Lee","year":"2008","journal-title":"RNA"},{"key":"ref_278","doi-asserted-by":"crossref","first-page":"5483","DOI":"10.1038\/s41598-019-41476-8","article-title":"Life-long reduction in myomiR expression does not adversely affect skeletal muscle morphology","volume":"9","author":"Vechetti","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_279","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1038\/nbt1372","article-title":"Endogenous microRNA can be broadly exploited to regulate transgene expression according to tissue, lineage and differentiation state","volume":"25","author":"Brown","year":"2007","journal-title":"Nat. Biotechnol."},{"key":"ref_280","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1161\/CIRCULATIONAHA.113.001340","article-title":"Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy","volume":"128","author":"Roudaut","year":"2013","journal-title":"Circulation"},{"key":"ref_281","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/gt.2010.141","article-title":"microRNA122-regulated transgene expression increases specificity of cardiac gene transfer upon intravenous delivery of AAV9 vectors","volume":"18","author":"Geisler","year":"2011","journal-title":"Gene Ther."},{"key":"ref_282","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1038\/gt.2010.157","article-title":"Liver-specific microRNA-122 target sequences incorporated in AAV vectors efficiently inhibits transgene expression in the liver","volume":"18","author":"Qiao","year":"2011","journal-title":"Gene Ther."},{"key":"ref_283","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/nm1398","article-title":"Endogenous microRNA regulation suppresses transgene expression in hematopoietic lineages and enables stable gene transfer","volume":"12","author":"Brown","year":"2006","journal-title":"Nat. Med."},{"key":"ref_284","doi-asserted-by":"crossref","first-page":"4144","DOI":"10.1182\/blood-2007-03-078493","article-title":"A microRNA-regulated lentiviral vector mediates stable correction of hemophilia B mice","volume":"110","author":"Brown","year":"2007","journal-title":"Blood"},{"key":"ref_285","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/jgm.2712","article-title":"Mir-142-3p target sequences reduce transgene-directed immunogenicity following intramuscular adeno-associated virus 1 vector-mediated gene delivery","volume":"15","author":"Majowicz","year":"2013","journal-title":"J. Gene Med."},{"key":"ref_286","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1038\/mt.2014.235","article-title":"Intrinsic Transgene Immunogenicity Gears CD8(+) T-cell Priming After rAAV-Mediated Muscle Gene Transfer","volume":"23","author":"Carpentier","year":"2015","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_287","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1089\/hum.2012.208","article-title":"Prolonged gene expression in muscle is achieved without active immune tolerance using microrRNA 142.3p-regulated rAAV gene transfer","volume":"24","author":"Boisgerault","year":"2013","journal-title":"Hum. Gene Ther."},{"key":"ref_288","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.omtm.2020.08.018","article-title":"High levels of frataxin overexpression leads to mitochondrial and cardiac toxicity in mouse model","volume":"19","author":"Belbellaa","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_289","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1016\/j.omtm.2020.05.006","article-title":"Variability in Cardiac miRNA-122 Level Determines Therapeutic Potential of miRNA-Regulated AAV Vectors","volume":"17","author":"Kraszewska","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_290","doi-asserted-by":"crossref","first-page":"39812","DOI":"10.1038\/srep39812","article-title":"miRNA and mRNA expression analysis reveals potential sex-biased miRNA expression","volume":"7","author":"Guo","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_291","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1476-511X-11-55","article-title":"Plasma levels of lipometabolism-related miR-122 and miR-370 are increased in patients with hyperlipidemia and associated with coronary artery disease","volume":"11","author":"Gao","year":"2012","journal-title":"Lipids Health Dis."},{"key":"ref_292","doi-asserted-by":"crossref","unstructured":"Puzzo, F., Colella, P., Biferi, M.G., Bali, D., Paulk, N.K., Vidal, P., Collaud, F., Simon-Sola, M., Charles, S., and Hardet, R. (2017). Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid alpha-glucosidase. Sci. Transl. Med., 9.","DOI":"10.1126\/scitranslmed.aam6375"},{"key":"ref_293","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1038\/sj.gt.3301221","article-title":"Influence of promoter and WHV post-transcriptional regulatory element on AAV-mediated transgene expression in the rat brain","volume":"7","author":"Paterna","year":"2000","journal-title":"Gene Ther."},{"key":"ref_294","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/nrg2628","article-title":"Exploiting and antagonizing microRNA regulation for therapeutic and experimental applications","volume":"10","author":"Brown","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"ref_295","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1089\/10430340260201725","article-title":"Delivery of alpha- and beta-sarcoglycan by recombinant adeno-associated virus: Efficient rescue of muscle, but differential toxicity","volume":"13","author":"Dressman","year":"2002","journal-title":"Hum. Gene Ther."},{"key":"ref_296","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1089\/hum.2014.057","article-title":"Manufacturing and characterization of a recombinant adeno-associated virus type 8 reference standard material","volume":"25","author":"Ayuso","year":"2014","journal-title":"Hum. Gene Ther."},{"key":"ref_297","doi-asserted-by":"crossref","first-page":"104624","DOI":"10.1016\/j.yrtph.2020.104624","article-title":"Opportunities for use of one species for longer-term toxicology testing during drug development: A cross-industry evaluation","volume":"113","author":"Prior","year":"2020","journal-title":"Regul. Toxicol. Pharmacol. RTP"},{"key":"ref_298","unstructured":"EMA (2020, November 25). Guideline on Quality, Non-Clinical and Clinical Requirements for Investigational Advanced Therapy Medicinal Products in Clinical Trials. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/scientific-guideline\/draft-guideline-quality-non-clinical-clinical-requirements-investigational-advanced-therapy_en.pdf."},{"key":"ref_299","unstructured":"EMA (2020, November 25). ICH Guideline S6 (R1)\u2013Preclinical Safety Evaluation of Biotechnology-Derived Pharmaceuticals. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/scientific-guideline\/ich-s6r1-preclinical-safety-evaluation-biotechnology-derived-pharmaceuticals-step-5_en.pdf."},{"key":"ref_300","doi-asserted-by":"crossref","first-page":"20139","DOI":"10.1038\/mtm.2013.9","article-title":"Empty Virions In AAV8 Vector Preparations Reduce Transduction Efficiency And May Cause Total Viral Particle Dose-Limiting Side-Effects","volume":"1","author":"Gao","year":"2014","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_301","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1148\/91.6.1195","article-title":"Relationship between liver size and body size","volume":"91","author":"Deland","year":"1968","journal-title":"Radiology"},{"key":"ref_302","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1182\/blood-2002-09-2889","article-title":"Sex significantly influences transduction of murine liver by recombinant adeno-associated viral vectors through an androgen-dependent pathway","volume":"102","author":"Davidoff","year":"2003","journal-title":"Blood"},{"key":"ref_303","doi-asserted-by":"crossref","first-page":"670","DOI":"10.3389\/fimmu.2020.00670","article-title":"Human Immune Responses to Adeno-Associated Virus (AAV) Vectors","volume":"11","author":"Ronzitti","year":"2020","journal-title":"Front. Immunol."},{"key":"ref_304","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/mt.2013.244","article-title":"Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery","volume":"22","author":"Chicoine","year":"2014","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_305","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1146\/annurev-virology-101416-041936","article-title":"Overcoming the Host Immune Response to Adeno-Associated Virus Gene Delivery Vectors: The Race between Clearance, Tolerance, Neutralization, and Escape","volume":"4","author":"Mingozzi","year":"2017","journal-title":"Annu. Rev. Virol."},{"key":"ref_306","doi-asserted-by":"crossref","first-page":"4098","DOI":"10.1038\/s41467-018-06621-3","article-title":"Antigen-selective modulation of AAV immunogenicity with tolerogenic rapamycin nanoparticles enables successful vector re-administration","volume":"9","author":"Meliani","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_307","doi-asserted-by":"crossref","first-page":"194ra192","DOI":"10.1126\/scitranslmed.3005795","article-title":"Overcoming preexisting humoral immunity to AAV using capsid decoys","volume":"5","author":"Mingozzi","year":"2013","journal-title":"Sci. Transl. Med."},{"key":"ref_308","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1038\/s41591-020-0911-7","article-title":"IgG-cleaving endopeptidase enables In Vivo gene therapy in the presence of anti-AAV neutralizing antibodies","volume":"26","author":"Leborgne","year":"2020","journal-title":"Nat. Med."},{"key":"ref_309","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1056\/NEJMoa1612567","article-title":"IgG Endopeptidase in Highly Sensitized Patients Undergoing Transplantation","volume":"377","author":"Jordan","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_310","doi-asserted-by":"crossref","unstructured":"Elmore, Z.C., Oh, D.K., Simon, K.E., Fanous, M.M., and Asokan, A. (2020). Rescuing AAV gene transfer from neutralizing antibodies with an IgG-degrading enzyme. JCI Insight, 5.","DOI":"10.1172\/jci.insight.139881"},{"key":"ref_311","doi-asserted-by":"crossref","first-page":"276","DOI":"10.2174\/1566523214666140612154521","article-title":"The human desmin promoter drives robust gene expression for skeletal muscle stem cell-mediated gene therapy","volume":"14","author":"Jonuschies","year":"2014","journal-title":"Curr. Gene Ther."},{"key":"ref_312","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1038\/mt.2012.164","article-title":"Ribosomal DNA integrating rAAV-rDNA vectors allow for stable transgene expression","volume":"20","author":"Lisowski","year":"2012","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_313","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.1038\/mt.2012.197","article-title":"Patterns of scAAV vector insertion associated with oncogenic events in a mouse model for genotoxicity","volume":"20","author":"Rosas","year":"2012","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_314","unstructured":"GlobeNewswire (2020, November 25). Sarepta Therapeutics and Genethon Announce a Gene Therapy Research Collaboration for the Treatment of Duchenne Muscular Dystrophy. Available online: https:\/\/www.globenewswire.com\/news-release\/2017\/06\/21\/1027114\/0\/en\/Sarepta-Therapeutics-and-Genethon-Announce-a-Gene-Therapy-Research-Collaboration-for-the-Treatment-of-Duchenne-Muscular-Dystrophy.html."}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/10\/4\/258\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:39:01Z","timestamp":1760179141000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/10\/4\/258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,28]]},"references-count":314,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,12]]}},"alternative-id":["jpm10040258"],"URL":"https:\/\/doi.org\/10.3390\/jpm10040258","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,28]]}}}