{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T22:07:58Z","timestamp":1793657278105,"version":"4.5.1"},"reference-count":184,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T00:00:00Z","timestamp":1767312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["AI-177600"],"award-info":[{"award-number":["AI-177600"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS-131416"],"award-info":[{"award-number":["NS-131416"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["AR-81018"],"award-info":[{"award-number":["AR-81018"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS-90634"],"award-info":[{"award-number":["NS-90634"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100023456","name":"Defeat Duchenne Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100023456","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy"],"published-print":{"date-parts":[[2026,4]]},"DOI":"10.1016\/j.ymthe.2025.12.067","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T16:13:08Z","timestamp":1767715988000},"page":"1893-1908","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Deaths in gene therapy of Duchenne muscular dystrophy and other diseases: Underlying mechanisms and mitigating strategies"],"prefix":"10.1016","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4109-1132","authenticated-orcid":false,"given":"Dongsheng","family":"Duan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7213-998X","authenticated-orcid":false,"given":"Roland W.","family":"Herzog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymthe.2025.12.067_bib1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.ymthe.2025.12.067_bib2","doi-asserted-by":"crossref","first-page":"4216","DOI":"10.1016\/j.ymthe.2025.06.031","article-title":"Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial","volume":"33","author":"Sherlock","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1002533","article-title":"Revised Estimates for the Number of Human and Bacteria Cells in the Body","volume":"14","author":"Sender","year":"2016","journal-title":"Plos Biol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib4","author":"Lin"},{"key":"10.1016\/j.ymthe.2025.12.067_bib5","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1056\/NEJMoa2307798","article-title":"Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy","volume":"389","author":"Lek","year":"2023","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib6","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1016\/j.ymthe.2025.05.017","article-title":"Lung endothelial transduction in a patient that succumbed to acute respiratory distress syndrome following high-dose rAAV9 gene therapy","volume":"33","author":"Hordeaux","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib7","author":"He"},{"key":"10.1016\/j.ymthe.2025.12.067_bib8","first-page":"617","article-title":"[How safe is gene therapy? : Second death after Duchenne therapy]","volume":"65","author":"Horn","year":"2024","journal-title":"Inn. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib9","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000213604","article-title":"Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee","volume":"104","author":"Oskoui","year":"2025","journal-title":"Neurology"},{"key":"10.1016\/j.ymthe.2025.12.067_bib10","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1016\/j.ymthe.2025.04.045","article-title":"Current clinical applications of AAV-mediated gene therapy","volume":"33","author":"Byrne","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib11","author":"Lorentzos"},{"key":"10.1016\/j.ymthe.2025.12.067_bib12","author":"Crudele"},{"key":"10.1016\/j.ymthe.2025.12.067_bib13","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1089\/hum.2023.056","article-title":"Immune responses to muscle-directed AAV gene transfer in clinical trials","volume":"34","author":"Kumar","year":"2023","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib14","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1089\/hum.2024.040","article-title":"Innate immune sensing of AAV vectors","volume":"35","author":"Cao","year":"2024","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib15","doi-asserted-by":"crossref","first-page":"1946","DOI":"10.1016\/j.ymthe.2025.03.037","article-title":"The curious case of AAV immunology","volume":"33","author":"Keeler","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib16","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1172\/JCI37607","article-title":"The TLR9-MyD88 pathway is critical for adaptive immune responses to adeno-associated virus gene therapy vectors in mice","volume":"119","author":"Zhu","year":"2009","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2025.12.067_bib17","doi-asserted-by":"crossref","first-page":"6459","DOI":"10.1182\/blood-2010-10-314518","article-title":"The genome of self-complementary adeno-associated viral vectors increases Toll-like receptor 9-dependent innate immune responses in the liver","volume":"117","author":"Martino","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2025.12.067_bib18","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/hep.24625","article-title":"Toll-like receptor 2-mediated innate immune response in human nonparenchymal liver cells toward adeno-associated viral vectors","volume":"55","author":"Hosel","year":"2012","journal-title":"Hepatology"},{"key":"10.1016\/j.ymthe.2025.12.067_bib19","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.omtm.2019.05.012","article-title":"Enhancement of Adeno-Associated Virus-Mediated Gene Therapy Using Hydroxychloroquine in Murine and Human Tissues","volume":"14","author":"Chandler","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2025.12.067_bib20","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1165\/ajrcmb\/7.3.349","article-title":"Gene expression from adeno-associated virus vectors in airway epithelial cells","volume":"7","author":"Flotte","year":"1992","journal-title":"Am. J. Respir. Cell Mol. Biol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib21","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.120474","article-title":"Double-stranded RNA innate immune response activation from long-term adeno-associated virus vector transduction","volume":"3","author":"Shao","year":"2018","journal-title":"Jci Insight"},{"key":"10.1016\/j.ymthe.2025.12.067_bib22","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.ymthe.2023.11.029","article-title":"TLR9-independent CD8(+) T cell responses in hepatic AAV gene transfer through IL-1R1-MyD88 signaling","volume":"32","author":"Kumar","year":"2024","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib23","doi-asserted-by":"crossref","DOI":"10.3390\/v16101507","article-title":"Redundancy in Innate Immune Pathways That Promote CD8(+) T-Cell Responses in AAV1 Muscle Gene Transfer","volume":"16","author":"Li","year":"2024","journal-title":"Viruses"},{"key":"10.1016\/j.ymthe.2025.12.067_bib24","doi-asserted-by":"crossref","first-page":"2727","DOI":"10.1128\/JVI.01990-07","article-title":"Complement is an essential component of the immune response to adeno-associated virus vectors","volume":"82","author":"Zaiss","year":"2008","journal-title":"J. Virol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib25","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.999021","article-title":"Pre-existing humoral immunity and complement pathway contribute to immunogenicity of adeno-associated virus (AAV) vector in human blood","volume":"13","author":"Smith","year":"2022","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib26","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1089\/hum.2023.018","article-title":"Complement Activation by Adeno-Associated Virus-Neutralizing Antibody Complexes","volume":"34","author":"West","year":"2023","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib27","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.ymthe.2024.02.002","article-title":"High-dose systemic adeno-associated virus vector administration causes liver and sinusoidal endothelial cell injury","volume":"32","author":"Hordeaux","year":"2024","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib28","doi-asserted-by":"crossref","DOI":"10.1172\/JCI173510","article-title":"Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies","volume":"134","author":"Salabarria","year":"2024","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2025.12.067_bib29","doi-asserted-by":"crossref","first-page":"4226","DOI":"10.1016\/j.ymthe.2025.06.032","article-title":"Complement Activation in a Phase Ib Study of Fordadistrogene Movaparvovec for Duchenne Muscular Dystrophy","volume":"33","author":"Byrne","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib30","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.emc.2025.03.008","article-title":"Thrombotic Microangiopathies","volume":"43","author":"Hanna","year":"2025","journal-title":"Emerg. Med. Clin. North Am."},{"key":"10.1016\/j.ymthe.2025.12.067_bib31","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1089\/hum.2024.156","article-title":"Thrombotic Microangiopathy Associated with Systemic Adeno-Associated Virus Gene Transfer: Review of Reported Cases","volume":"36","author":"Laforet","year":"2025","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib32","doi-asserted-by":"crossref","first-page":"1722","DOI":"10.1016\/S0140-6736(22)01202-8","article-title":"Haemolytic uraemic syndrome","volume":"400","author":"Michael","year":"2022","journal-title":"Lancet"},{"key":"10.1016\/j.ymthe.2025.12.067_bib33","doi-asserted-by":"crossref","first-page":"4266","DOI":"10.1182\/bloodadvances.2021006419","article-title":"Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy","volume":"6","author":"Guillou","year":"2022","journal-title":"Blood Adv."},{"key":"10.1016\/j.ymthe.2025.12.067_bib34","article-title":"Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing <\/=17 kg and <\/=24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study","volume":"49","author":"Saute","year":"2025","journal-title":"Lancet Reg. Health Am."},{"key":"10.1016\/j.ymthe.2025.12.067_bib35","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1111\/jcpt.13733","article-title":"Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy","volume":"47","author":"Galletta","year":"2022","journal-title":"J. Clin. Pharm. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib36","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1016\/j.ymthe.2022.11.007","article-title":"Secondary hemophagocytic lymphohistiocytosis following Zolgensma therapy: An evolving story on the innate response to systemic gene therapy","volume":"30","author":"Byrne","year":"2022","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib37","author":"Donald"},{"key":"10.1016\/j.ymthe.2025.12.067_bib38","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1056\/NEJMra2314005","article-title":"Hemophagocytic Lymphohistiocytosis","volume":"392","author":"Henter","year":"2025","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib39","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.clinre.2020.03.019","article-title":"Sinusoidal obstruction syndrome","volume":"44","author":"de Ledinghen","year":"2020","journal-title":"Clin. Res. Hepatol. Gastroenterol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib40","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/s41572-024-00571-5","article-title":"Systemic capillary leak syndrome","volume":"10","author":"Druey","year":"2024","journal-title":"Nat. Rev. Dis. Primers"},{"key":"10.1016\/j.ymthe.2025.12.067_bib41","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1056\/NEJMoa2412392","article-title":"Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease","volume":"392","author":"Greenberg","year":"2025","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib42","series-title":"Rocket Pharmaceuticals Provides Update on Phase 2 Clinical Trial of RP-A501 for Danon Disease","year":"2025"},{"key":"10.1016\/j.ymthe.2025.12.067_bib43","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1146\/annurev.pathol.4.110807.092155","article-title":"Mechanisms of endothelial dysfunction, injury, and death","volume":"4","author":"Pober","year":"2009","journal-title":"Annu. Rev. Pathol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib44","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1038\/35091082","article-title":"Virus-mediated killing of cells that lack p53 activity","volume":"412","author":"Raj","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ymthe.2025.12.067_bib45","doi-asserted-by":"crossref","first-page":"3635","DOI":"10.1093\/ndt\/gfn308","article-title":"Bacterial DNA and endothelial damage in haemodialysis patients","volume":"23","author":"Merino","year":"2008","journal-title":"Nephrol. Dial. Transpl."},{"key":"10.1016\/j.ymthe.2025.12.067_bib46","doi-asserted-by":"crossref","first-page":"4386","DOI":"10.4049\/jimmunol.0803044","article-title":"Bacterial DNA activates endothelial cells and promotes neutrophil adherence through TLR9 signaling","volume":"182","author":"El Kebir","year":"2009","journal-title":"J. Immunol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib47","doi-asserted-by":"crossref","first-page":"2999","DOI":"10.1016\/j.ymthe.2023.07.020","article-title":"Liver injury in cynomolgus monkeys following intravenous and intrathecal scAAV9 gene therapy delivery","volume":"31","author":"Hudry","year":"2023","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib48","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":"10.1016\/j.ymthe.2025.12.067_bib49","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/nm1549","article-title":"CD8(+) T-cell responses to adeno-associated virus capsid in humans","volume":"13","author":"Mingozzi","year":"2007","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib50","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1172\/JCI36891","article-title":"Capsid antigen presentation flags human hepatocytes for destruction after transduction by adeno-associated viral vectors","volume":"119","author":"Pien","year":"2009","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2025.12.067_bib51","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":"10.1016\/j.ymthe.2025.12.067_bib52","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1182\/blood.2019004625","article-title":"BAX 335 hemophilia B gene therapy clinical trial results: potential impact of CpG sequences on gene expression","volume":"137","author":"Konkle","year":"2021","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2025.12.067_bib53","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1056\/NEJMoa2104205","article-title":"Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A","volume":"385","author":"George","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib54","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1056\/NEJMoa2307159","article-title":"Fidanacogene Elaparvovec for Hemophilia B - A Multiyear Follow-up Study","volume":"392","author":"Rasko","year":"2025","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib55","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.jpeds.2020.05.044","article-title":"Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1","volume":"225","author":"Feldman","year":"2020","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymthe.2025.12.067_bib56","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/j.jhep.2020.11.001","article-title":"Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy","volume":"74","author":"Chand","year":"2021","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib57","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1089\/hum.2022.29216.bfs","article-title":"Novartis Confirms Deaths of Two Patients Treated with Gene Therapy Zolgensma","volume":"33","author":"Philippidis","year":"2022","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib58","doi-asserted-by":"crossref","first-page":"3123","DOI":"10.1016\/j.ymthe.2023.10.015","article-title":"Lethal immunotoxicity in high-dose systemic AAV therapy","volume":"31","author":"Duan","year":"2023","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib59","doi-asserted-by":"crossref","DOI":"10.1016\/j.omtm.2024.101296","article-title":"Subacute liver injury in two young infants following gene replacement therapy for spinal muscular atrophy","volume":"32","author":"Ables","year":"2024","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2025.12.067_bib60","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U","article-title":"Abnormal fatty acid metabolism in childhood spinal muscular atrophy","volume":"45","author":"Crawford","year":"1999","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib61","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1002\/acn3.50855","article-title":"Abnormal fatty acid metabolism is a core component of spinal muscular atrophy","volume":"6","author":"Deguise","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib62","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.jcmgh.2021.01.019","article-title":"SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease","volume":"12","author":"Deguise","year":"2021","journal-title":"Cell. Mol. Gastroenterol. Hepatol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib63","doi-asserted-by":"crossref","DOI":"10.1172\/JCI173702","article-title":"Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy","volume":"134","author":"Leow","year":"2024","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2025.12.067_bib64","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1089\/hum.2020.217","article-title":"Re: \u201cMoving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy\u201d by Wilson and Flotte","volume":"31","author":"Shieh","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib65","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/S1474-4422(23)00313-7","article-title":"Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial","volume":"22","author":"Shieh","year":"2023","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib66","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1186\/s13023-021-02055-1","article-title":"Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies","volume":"16","author":"D'Amico","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymthe.2025.12.067_bib67","doi-asserted-by":"crossref","first-page":"73","DOI":"10.3233\/JND-210712","article-title":"Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report","volume":"9","author":"Molera","year":"2022","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.ymthe.2025.12.067_bib68","doi-asserted-by":"crossref","DOI":"10.1172\/JCI166275","article-title":"Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy","volume":"133","author":"Karolczak","year":"2023","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2025.12.067_bib69","first-page":"497","article-title":"Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study","volume":"12","author":"Colombo","year":"2025","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.ymthe.2025.12.067_bib70","article-title":"Gene Replacement Therapy (Resamirigene Bilparvovec) Trial in XLMTM: Pathologic Findings in Four Deceased Participants","volume":"9","author":"Lawlor","year":"2022","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.ymthe.2025.12.067_bib71","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0022-1759(91)90087-V","article-title":"Assessment of the inhibitory effect of immunosuppressive agents on rat T cell interferon-gamma production using an ELISPOT assay","volume":"144","author":"van der Meide","year":"1991","journal-title":"J. Immunol. Methods"},{"key":"10.1016\/j.ymthe.2025.12.067_bib72","doi-asserted-by":"crossref","DOI":"10.1177\/03946320251325062","article-title":"Impact of tacrolimus on interferon gamma ELISpot assay results for the assessment of T-cell immunity: Proof-of-concept","volume":"39","author":"Truffot","year":"2025","journal-title":"Int. J. Immunopathol. Pharmacol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib73","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1038\/s41591-024-03304-z","article-title":"AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial","volume":"31","author":"Mendell","year":"2025","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib74","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2024.11.005","article-title":"Acute Liver Injury Following Delandistrogene Moxeparvovec Gene Therapy Requiring Intravenous Immunoglobulin","volume":"163","author":"Duvuru","year":"2025","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib75","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ymthe.2025.10.007","article-title":"Real-world outcomes of delandistrogene moxeparvovec gene therapy: Motor outcomes and emerging safety concerns","volume":"34","author":"Keselman","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib76","article-title":"Real-world experience with gene therapy in Duchenne muscular dystrophy center readiness and patients safety: report from Qatar","author":"Osman","year":"2025","journal-title":"Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib77","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1001\/jamaneurol.2020.1484","article-title":"Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial","volume":"77","author":"Mendell","year":"2020","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib78","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/s41591-023-02730-9","article-title":"Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E\/R4: phase 1\/2 trial results","volume":"30","author":"Mendell","year":"2024","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib79","doi-asserted-by":"crossref","first-page":"3184","DOI":"10.1182\/blood-2016-11-751040","article-title":"Plasmacytoid and conventional dendritic cells cooperate in crosspriming AAV capsid-specific CD8(+) T cells","volume":"129","author":"Rogers","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2025.12.067_bib80","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.ymthe.2019.11.011","article-title":"Type I IFN Sensing by cDCs and CD4(+) T Cell Help Are Both Requisite for Cross-Priming of AAV Capsid-Specific CD8(+) T Cells","volume":"28","author":"Shirley","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib81","doi-asserted-by":"crossref","first-page":"2994","DOI":"10.1172\/JCI68205","article-title":"CpG-depleted adeno-associated virus vectors evade immune detection","volume":"123","author":"Faust","year":"2013","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymthe.2025.12.067_bib82","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.abd3438","article-title":"Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses","volume":"13","author":"Chan","year":"2021","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib83","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.672449","article-title":"Effect of CpG Depletion of Vector Genome on CD8(+) T Cell Responses in AAV Gene Therapy","volume":"12","author":"Bertolini","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib84","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":"10.1016\/j.ymthe.2025.12.067_bib85","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.ymthe.2020.01.026","article-title":"Codon Modification and PAMPs in Clinical AAV Vectors: The Tortoise or the Hare?","volume":"28","author":"Wright","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib86","doi-asserted-by":"crossref","first-page":"1756","DOI":"10.1016\/j.ymthe.2020.07.006","article-title":"Quantification of CpG Motifs in rAAV Genomes: Avoiding the Toll","volume":"28","author":"Wright","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib87","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.jacl.2020.05.098","article-title":"High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia","volume":"14","author":"White","year":"2020","journal-title":"J. Clin. Lipidol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib88","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-021-92406-6","article-title":"Plasma lipidomic analysis shows a disease progression signature in mdx mice","volume":"11","author":"Tsonaka","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ymthe.2025.12.067_bib89","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1097\/MPG.0b013e318217f5d9","article-title":"Duchenne and Becker muscular dystrophy presenting as nonalcoholic fatty liver disease","volume":"53","author":"Veropalumbo","year":"2011","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.ymthe.2025.12.067_bib90","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1186\/1824-7288-38-64","article-title":"Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance","volume":"38","author":"Paolella","year":"2012","journal-title":"Ital. J. Pediatr."},{"key":"10.1016\/j.ymthe.2025.12.067_bib91","doi-asserted-by":"crossref","DOI":"10.3390\/nu14040727","article-title":"Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy","volume":"14","author":"Tang","year":"2022","journal-title":"Nutrients"},{"key":"10.1016\/j.ymthe.2025.12.067_bib92","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/s12014-018-9212-2","article-title":"Proteomic profiling of liver tissue from the mdx-4cv mouse model of Duchenne muscular dystrophy","volume":"15","author":"Murphy","year":"2018","journal-title":"Clin. Proteomics"},{"key":"10.1016\/j.ymthe.2025.12.067_bib93","doi-asserted-by":"crossref","first-page":"1966","DOI":"10.1038\/s41587-024-02523-6","article-title":"AAV capsid prioritization in normal and steatotic human livers maintained by machine perfusion","volume":"43","author":"Kim","year":"2025","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib94","doi-asserted-by":"crossref","DOI":"10.1177\/10760296221128294","article-title":"Prevalence of non-Alcoholic Fatty Liver Disease and Associated Factors in Patients with Moderate or Severe Hemophilia: A Multicenter-Based Study","volume":"28","author":"Shen","year":"2022","journal-title":"Clin. Appl. Thromb. Hemost."},{"key":"10.1016\/j.ymthe.2025.12.067_bib95","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1016\/j.ymthe.2025.03.043","article-title":"Gene therapy for hemophilia - From basic science to first approvals of \u201cone-and-done\u201d therapies","volume":"33","author":"Herzog","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib96","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0888-7543(88)90113-9","article-title":"An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus","volume":"2","author":"Monaco","year":"1988","journal-title":"Genomics"},{"key":"10.1016\/j.ymthe.2025.12.067_bib97","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1001\/jamaneurol.2013.4908","article-title":"Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping","volume":"71","author":"Anthony","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib98","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1002\/ana.24365","article-title":"Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45","volume":"77","author":"Findlay","year":"2015","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib99","first-page":"907","article-title":"Rhabdomyolysis","volume":"65","author":"Sauret","year":"2002","journal-title":"Am. Fam. Physician"},{"key":"10.1016\/j.ymthe.2025.12.067_bib100","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1111\/j.1460-9592.2007.02302.x","article-title":"Duchenne muscular dystrophy: an old anesthesia problem revisited","volume":"18","author":"Hayes","year":"2008","journal-title":"Paediatr. Anaesth."},{"key":"10.1016\/j.ymthe.2025.12.067_bib101","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/BF00838159","article-title":"Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy","volume":"240","author":"Doriguzzi","year":"1993","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib102","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1136\/adc.69.1.158","article-title":"Becker muscular dystrophy: an unusual presentation","volume":"69","author":"Thakker","year":"1993","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ymthe.2025.12.067_bib103","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1093\/ndt\/13.3.757","article-title":"A case of Becker muscular dystrophy and massive myoglobinuria with minimal renal manifestations","volume":"13","author":"Shoji","year":"1998","journal-title":"Nephrol. Dial. Transpl."},{"key":"10.1016\/j.ymthe.2025.12.067_bib104","doi-asserted-by":"crossref","first-page":"123","DOI":"10.4103\/aian.AIAN_215_19","article-title":"A Novel Mutation in N-Terminal Actin-Binding Domain of the DMD Gene Presenting Becker Muscular Dystrophy as Recurrent Exertional Rhabdomyolysis: A Case Report","volume":"23","author":"Lee","year":"2020","journal-title":"Ann. Indian Acad. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib105","doi-asserted-by":"crossref","DOI":"10.3389\/fcell.2023.1167762","article-title":"Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy","volume":"11","author":"Mendell","year":"2023","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib106","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.pediatrneurol.2024.01.003","article-title":"Practical Considerations for Delandistrogene Moxeparvovec Gene Therapy in Patients With Duchenne Muscular Dystrophy","volume":"153","author":"Mendell","year":"2024","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib107","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1056\/NEJMoa1000228","article-title":"Dystrophin immunity in Duchenne's muscular dystrophy","volume":"363","author":"Mendell","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib108","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1056\/NEJMc2212912","article-title":"Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy","volume":"388","author":"Bonnemann","year":"2023","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib109","doi-asserted-by":"crossref","first-page":"5659","DOI":"10.1007\/s00415-024-12431-z","article-title":"Immune-mediated myositis following gene therapy for Duchenne muscular dystrophy: a case report","volume":"271","author":"Iannaccone","year":"2024","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib110","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/s41598-024-84077-w","article-title":"Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy","volume":"15","author":"Potter","year":"2025","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ymthe.2025.12.067_bib111","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/S1525-0016(03)00179-5","article-title":"Identification of an HLA-A\u22170201-restricted epitopic peptide from human dystrophin: application in duchenne muscular dystrophy gene therapy","volume":"8","author":"Ginhoux","year":"2003","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib112","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1161\/01.CIR.103.6.864","article-title":"Flow (shear stress)-induced endothelium-dependent dilation is altered in mice lacking the gene encoding for dystrophin","volume":"103","author":"Loufrani","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.ymthe.2025.12.067_bib113","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1161\/ATVBAHA.112.301172","article-title":"Angiogenic impairment of the vascular endothelium: a novel mechanism and potential therapeutic target in muscular dystrophy","volume":"33","author":"Palladino","year":"2013","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib114","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1002\/path.5704","article-title":"Dystrophin deficiency impairs vascular structure and function in the canine model of Duchenne muscular dystrophy","volume":"254","author":"Kodippili","year":"2021","journal-title":"J. Pathol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib115","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1620\/tjem.140.381","article-title":"Endothelial alterations of skeletal muscle capillaries in childhood myopathies","volume":"140","author":"Kobayashi","year":"1983","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib116","doi-asserted-by":"crossref","DOI":"10.3390\/biology12030422","article-title":"Uncovering the Gene Regulatory Network of Endothelial Cells in Mouse Duchenne Muscular Dystrophy: Insights from Single-Nuclei RNA Sequencing Analysis","volume":"12","author":"Shen","year":"2023","journal-title":"Biology"},{"key":"10.1016\/j.ymthe.2025.12.067_bib117","doi-asserted-by":"crossref","first-page":"687","DOI":"10.3233\/JND-230185","article-title":"Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy","volume":"11","author":"Zaidman","year":"2024","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.ymthe.2025.12.067_bib118","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2025.106208","article-title":"Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy","volume":"54","author":"Wolff","year":"2025","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ymthe.2025.12.067_bib119","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1177\/22143602241303357","article-title":"Taking ACTION to detect myocarditis related to recombinant gene transfer therapy for Duchenne Muscular Dystrophy; Consensus recommendations for cardiac surveillance","volume":"12","author":"Kaufman","year":"2025","journal-title":"J. Neuromuscul. Dis."},{"key":"10.1016\/j.ymthe.2025.12.067_bib120","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.658038","article-title":"Immunomodulation in Administration of rAAV: Preclinical and Clinical Adjuvant Pharmacotherapies","volume":"12","author":"Chu","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib121","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1089\/hum.2022.138","article-title":"Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches","volume":"33","author":"Prasad","year":"2022","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib122","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1016\/j.jhep.2023.03.021","article-title":"Multidisciplinary approach and reactive immunosuppression for gene therapy-related hepatotoxicity","volume":"79","author":"Jagadisan","year":"2023","journal-title":"J. Hepatol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib123","doi-asserted-by":"crossref","first-page":"3220","DOI":"10.1016\/j.ymthe.2024.07.016","article-title":"A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders","volume":"32","author":"Vrellaku","year":"2024","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib124","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.coviro.2016.08.003","article-title":"In vivo tissue-tropism of adeno-associated viral vectors","volume":"21","author":"Srivastava","year":"2016","journal-title":"Curr. Opin. Virol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib125","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.omtn.2023.05.014","article-title":"Rationale and strategies for the development of safe and effective optimized AAV vectors for human gene therapy. Molecular therapy","volume":"32","author":"Srivastava","year":"2023","journal-title":"Nucleic acids"},{"key":"10.1016\/j.ymthe.2025.12.067_bib126","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1016\/j.ymthe.2025.03.056","article-title":"Advances in AAV capsid engineering: Integrating rational design, directed evolution and machine learning","volume":"33","author":"Nisanov","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib127","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1089\/hum.2015.107","article-title":"Perspective on adeno-associated virus (AAV) capsid modification for Duchenne muscular dystrophy gene therapy","volume":"26","author":"Nance","year":"2015","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib128","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1089\/hum.2023.057","article-title":"Progress in bioengineering of myotropic Adeno-associated viral (AAV) gene therapy vectors","volume":"34","author":"Liu","year":"2023","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib129","doi-asserted-by":"crossref","first-page":"5432","DOI":"10.1038\/s41467-020-19230-w","article-title":"Identification of a myotropic AAV by massively parallel in vivo evaluation of barcoded capsid variants","volume":"11","author":"Weinmann","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymthe.2025.12.067_bib130","doi-asserted-by":"crossref","first-page":"4919","DOI":"10.1016\/j.cell.2021.08.028","article-title":"Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species","volume":"184","author":"Tabebordbar","year":"2021","journal-title":"Cell"},{"key":"10.1016\/j.ymthe.2025.12.067_bib131","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abn4704","article-title":"Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders","volume":"8","author":"El Andari","year":"2022","journal-title":"Sci. Adv."},{"key":"10.1016\/j.ymthe.2025.12.067_bib132","first-page":"728","article-title":"Novel AAV capsid identification and characterization for neuromuscular and cardiac indications","volume":"31","author":"Green","year":"2023","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib133","doi-asserted-by":"crossref","first-page":"7965","DOI":"10.1038\/s41467-024-52002-4","article-title":"An engineered AAV targeting integrin alpha V beta 6 presents improved myotropism across species","volume":"15","author":"Vu Hong","year":"2024","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymthe.2025.12.067_bib134","author":"Boehler"},{"key":"10.1016\/j.ymthe.2025.12.067_bib135","author":"Meggersee"},{"key":"10.1016\/j.ymthe.2025.12.067_bib137","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/j.omtm.2020.03.007","article-title":"Site-Directed Mutagenesis Improves the Transduction Efficiency of Capsid Library-Derived Recombinant AAV Vectors. Molecular therapy","volume":"17","author":"Ran","year":"2020","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2025.12.067_bib138","doi-asserted-by":"crossref","first-page":"7827","DOI":"10.1073\/pnas.0802866105","article-title":"Next generation of adeno-associated virus 2 vectors: point mutations in tyrosines lead to high-efficiency transduction at lower doses","volume":"105","author":"Zhong","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymthe.2025.12.067_bib139","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1182\/blood-2012-10-460733","article-title":"Engineered AAV vector minimizes in vivo targeting of transduced hepatocytes by capsid-specific CD8+ T cells","volume":"121","author":"Martino","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2025.12.067_bib140","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1159\/000369273","article-title":"Unique Roles of TLR9- and MyD88-Dependent and -Independent Pathways in Adaptive Immune Responses to AAV-Mediated Gene Transfer","volume":"7","author":"Rogers","year":"2015","journal-title":"J. Innate Immun."},{"key":"10.1016\/j.ymthe.2025.12.067_bib141","doi-asserted-by":"crossref","DOI":"10.1016\/j.cellimm.2019.103997","article-title":"TLR9 signaling mediates adaptive immunity following systemic AAV gene therapy","volume":"346","author":"Ashley","year":"2019","journal-title":"Cell. Immunol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib142","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/s41434-021-00296-0","article-title":"Rational engineering of a functional CpG-free ITR for AAV gene therapy","volume":"29","author":"Pan","year":"2022","journal-title":"Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib143","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1111\/j.1749-6632.2009.04970.x","article-title":"Therapeutic applications and mechanisms underlying the activity of immunosuppressive oligonucleotides","volume":"1175","author":"Klinman","year":"2009","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.ymthe.2025.12.067_bib144","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1038\/nature14138","article-title":"Structural basis of CpG and inhibitory DNA recognition by Toll-like receptor 9","volume":"520","author":"Ohto","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ymthe.2025.12.067_bib145","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1165\/rcmb.2024-0247OC","article-title":"Novel Immune Response Evasion Strategy to Redose Adeno-associated Viral Vectors and Prolong Survival in Surfactant Protein-B-Deficient Mice","volume":"73","author":"Kang","year":"2025","journal-title":"Am. J. Respir. Cell Mol. Biol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib146","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":"Hartigan-O'Connor","year":"2001","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib147","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":"10.1016\/j.ymthe.2025.12.067_bib148","doi-asserted-by":"crossref","first-page":"5152","DOI":"10.1182\/blood-2009-04-214569","article-title":"In vivo delivery of a microRNA-regulated transgene induces antigen-specific regulatory T cells and promotes immunologic tolerance","volume":"114","author":"Annoni","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.ymthe.2025.12.067_bib149","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1038\/mt.2010.290","article-title":"A microRNA-regulated and GP64-pseudotyped lentiviral vector mediates stable expression of FVIII in a murine model of Hemophilia A","volume":"19","author":"Matsui","year":"2011","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib150","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":"10.1016\/j.ymthe.2025.12.067_bib151","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":"10.1016\/j.ymthe.2025.12.067_bib152","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":"10.1016\/j.ymthe.2025.12.067_bib153","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.674242","article-title":"Novel Combinatorial MicroRNA-Binding Sites in AAV Vectors Synergistically Diminish Antigen Presentation and Transgene Immunity for Efficient and Stable Transduction","volume":"12","author":"Muhuri","year":"2021","journal-title":"Front. Immunol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib154","article-title":"Circumventing cellular immunity by miR142-mediated regulation sufficiently supports rAAV-delivered OVA expression without activating humoral immunity","volume":"5","author":"Xiao","year":"2019","journal-title":"Jci Insight"},{"key":"10.1016\/j.ymthe.2025.12.067_bib155","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1089\/hum.2022.180","article-title":"The implication of hinge 1 and hinge 4 in micro-dystrophin gene therapy for Duchenne muscular dystrophy","volume":"34","author":"Wasala","year":"2023","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib156","doi-asserted-by":"crossref","first-page":"6769","DOI":"10.1038\/s41467-021-26830-7","article-title":"Cas9-specific immune responses compromise local and systemic AAV CRISPR therapy in multiple dystrophic canine models","volume":"12","author":"Hakim","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymthe.2025.12.067_bib157","doi-asserted-by":"crossref","first-page":"1842","DOI":"10.1038\/s41467-019-09693-x","article-title":"Multifunctional CRISPR-Cas9 with engineered immunosilenced human T cell epitopes","volume":"10","author":"Ferdosi","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymthe.2025.12.067_bib158","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/s41467-024-55522-1","article-title":"Rational engineering of minimally immunogenic nucleases for gene therapy","volume":"16","author":"Raghavan","year":"2025","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymthe.2025.12.067_bib159","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1242\/jcs.064808","article-title":"Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin","volume":"123","author":"Li","year":"2010","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ymthe.2025.12.067_bib160","doi-asserted-by":"crossref","first-page":"5723","DOI":"10.1073\/pnas.1323842111","article-title":"Microtubule binding distinguishes dystrophin from utrophin","volume":"111","author":"Belanto","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymthe.2025.12.067_bib161","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1038\/s41591-019-0594-0","article-title":"Non-immunogenic utrophin gene therapy for the treatment of muscular dystrophy animal models","volume":"25","author":"Song","year":"2019","journal-title":"Nat. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib162","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2021.647010","article-title":"Abnormal calcium handling in Duchenne muscular dystrophy: mechanisms and potential therapies","volume":"12","author":"Mareedu","year":"2021","journal-title":"Front. Physiol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib163","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.ymthe.2019.12.011","article-title":"Single SERCA2a Therapy Ameliorated Dilated Cardiomyopathy for 18 Months in a Mouse Model of Duchenne Muscular Dystrophy","volume":"28","author":"Wasala","year":"2020","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib164","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.122.027480","article-title":"Dwarf Open Reading Frame (DWORF) Gene Therapy Ameliorated Duchenne Muscular Dystrophy Cardiomyopathy in Aged mdx Mice","volume":"12","author":"Morales","year":"2023","journal-title":"J. Am. Heart Assoc."},{"key":"10.1016\/j.ymthe.2025.12.067_bib165","doi-asserted-by":"crossref","DOI":"10.1016\/j.omtm.2024.101268","article-title":"SERCA2a overexpression improves muscle function in a canine Duchenne muscular dystrophy model","volume":"32","author":"Kodippili","year":"2024","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2025.12.067_bib166","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/nrm3949","article-title":"The selection and function of cell type-specific enhancers","volume":"16","author":"Heinz","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib167","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.biocel.2017.06.016","article-title":"How introns enhance gene expression","volume":"91","author":"Shaul","year":"2017","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib168","doi-asserted-by":"crossref","first-page":"6453","DOI":"10.1007\/s00018-021-03903-w","article-title":"Transcriptional enhancers and their communication with gene promoters","volume":"78","author":"Ray-Jones","year":"2021","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.ymthe.2025.12.067_bib169","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1016\/j.tig.2022.05.015","article-title":"Transcriptional enhancers at 40: evolution of a viral DNA element to nuclear architectural structures","volume":"38","author":"Nair","year":"2022","journal-title":"Trends Genet."},{"key":"10.1016\/j.ymthe.2025.12.067_bib170","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1261\/rna.080310.124","article-title":"Cellular translational enhancer elements that recruit eukaryotic initiation factor 3","volume":"31","author":"Koubek","year":"2025","journal-title":"RNA"},{"key":"10.1016\/j.ymthe.2025.12.067_bib171","doi-asserted-by":"crossref","DOI":"10.1016\/j.omtn.2025.102494","article-title":"RNAa: Mechanisms, therapeutic potential, and clinical progress","volume":"36","author":"Qian","year":"2025","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ymthe.2025.12.067_bib172","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1128\/JVI.02581-14","article-title":"Enhanced Transgene Expression from Recombinant Single-Stranded D-Sequence-Substituted Adeno-Associated Virus Vectors in Human Cell Lines In Vitro and in Murine Hepatocytes In Vivo","volume":"89","author":"Ling","year":"2015","journal-title":"J. Virol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib173","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1089\/hgtb.2016.054","article-title":"Development of optimized AAV serotype vectors for high-efficiency transduction at further reduced doses","volume":"27","author":"Ling","year":"2016","journal-title":"Hum. Gene Ther. Methods"},{"key":"10.1016\/j.ymthe.2025.12.067_bib174","doi-asserted-by":"crossref","DOI":"10.1016\/j.omtm.2023.101147","article-title":"Development of capsid- and genome-modified optimized AAVrh74 vectors for muscle gene therapy","volume":"31","author":"Shoti","year":"2023","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2025.12.067_bib175","article-title":"Enhanced transgene expression from single-stranded AAV vectors in human cells in vitro and in murine hepatocytes in vivo. Molecular therapy","volume":"35","author":"Lu","year":"2024","journal-title":"Nucleic acids"},{"key":"10.1016\/j.ymthe.2025.12.067_bib176","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/j.omtm.2018.12.007","article-title":"Protein-Engineered Coagulation Factors for Hemophilia Gene Therapy","volume":"12","author":"Samelson-Jones","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2025.12.067_bib177","doi-asserted-by":"crossref","first-page":"2517","DOI":"10.1016\/j.ymthe.2024.12.051","article-title":"Heterogeneity, a weak link between constrained AAV dose and long-term efficacy of gene therapy to muscular dystrophy: A critical and prospective review","volume":"33","author":"Lu","year":"2025","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib178","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2206324120","article-title":"Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle","volume":"120","author":"Morin","year":"2023","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ymthe.2025.12.067_bib179","first-page":"73","article-title":"High-Dose AAV Toxicity in Mice: Serotype-Dependent Hepatocellular Damage and Complement Deposition and Activation","volume":"31","author":"Buchlis","year":"2023","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib180","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1038\/s41392-025-02336-2","article-title":"AAV for gene therapy drives a nephrotoxic response via NFkappaB in kidney organoids","volume":"10","author":"Gupta","year":"2025","journal-title":"Signal Transduct. Target. Ther."},{"key":"10.1016\/j.ymthe.2025.12.067_bib181","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aba9188","article-title":"MicroRNA-mediated inhibition of transgene expression reduces dorsal root ganglion toxicity by AAV vectors in primates","volume":"12","author":"Hordeaux","year":"2020","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.ymthe.2025.12.067_bib182","doi-asserted-by":"crossref","first-page":"3238","DOI":"10.3748\/wjg.v27.i23.3238","article-title":"Clinical indicators for progression of nonalcoholic steatohepatitis to cirrhosis","volume":"27","author":"Seen","year":"2021","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/j.ymthe.2025.12.067_bib183","doi-asserted-by":"crossref","DOI":"10.1016\/j.omtm.2024.101309","article-title":"Characterization of AAV vectors: A review of analytical techniques and critical quality attributes","volume":"32","author":"Kontogiannis","year":"2024","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.ymthe.2025.12.067_bib184","series-title":"GNT0004, Genethon's AAV-based gene therapy for Duchenne muscular dystrophy: long-term follow-up of ambulatory boys enrolled in the dose-escalation phase of GNT-016-MDYF","author":"Laugel","year":"2025"},{"key":"10.1016\/j.ymthe.2025.12.067_bib185","article-title":"RGX-202, an Investigational Gene Therapy for the Treatment of Duchenne Muscular Dystrophy","author":"Danos","year":"2025","journal-title":"Interim Clinical Data. 28th Annual Meeting of the American Society of Cell and Gene Therapy."}],"container-title":["Molecular Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001625011323?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525001625011323?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T15:36:13Z","timestamp":1775057773000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525001625011323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":184,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["S1525001625011323"],"URL":"https:\/\/doi.org\/10.1016\/j.ymthe.2025.12.067","relation":{},"ISSN":["1525-0016"],"issn-type":[{"value":"1525-0016","type":"print"}],"subject":[],"published":{"date-parts":[[2026,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Deaths in gene therapy of Duchenne muscular dystrophy and other diseases: Underlying mechanisms and mitigating strategies","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymthe.2025.12.067","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier Inc. on behalf of The American Society of Gene and Cell Therapy.","name":"copyright","label":"Copyright"}]}}