Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med. 2010;363:355–64.

CAS  PubMed  PubMed Central  Google Scholar 

Nathwani AC, Reiss UM, Tuddenham EG, Rosales C, Chowdary P, McIntosh J, et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med. 2014;371:1994–2004.

PubMed  PubMed Central  Google Scholar 

Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377:1713–22.

CAS  PubMed  Google Scholar 

Greenberg B, Butler J, Felker GM, Ponikowski P, Voors AA, Desai AS, et al. Calcium Upregulation by Percutaneous Administration of Gene Therapy in Patients With Cardiac Disease (CUPID 2): A Randomised, Multinational, Double-Blind, Placebo-Controlled, Phase 2b Trial. The Lancet. 2016.

Hajjar RJ, Ishikawa K. Introducing Genes to the Heart: All About Delivery. Circ Res. 2017;120:33–5.

CAS  PubMed  PubMed Central  Google Scholar 

Yang L, Jiang J, Drouin LM, Agbandje-McKenna M, Chen C, Qiao C, et al. A myocardium tropic adeno-associated virus (AAV) evolved by DNA shuffling and in vivo selection. Proc Natl Acad Sci USA. 2009;106:3946–51.

CAS  PubMed  PubMed Central  Google Scholar 

Pulicherla N, Shen S, Yadav S, Debbink K, Govindasamy L, Agbandje-McKenna M, et al. Engineering liver-detargeted AAV9 vectors for cardiac and musculoskeletal gene transfer. Mol Ther. 2011;19:1070–8.

CAS  PubMed  PubMed Central  Google Scholar 

Varadi K, Michelfelder S, Korff T, Hecker M, Trepel M, Katus HA, et al. Novel random peptide libraries displayed on AAV serotype 9 for selection of endothelial cell-directed gene transfer vectors. Gene Ther. 2012;19:800–9.

CAS  PubMed  Google Scholar 

Xu L, Yao S, Ding YE, Xie M, Feng D, Sha P, et al. Designing and optimizing AAV-mediated gene therapy for neurodegenerative diseases: from bench to bedside. J Transl Med. 2024;22:866.

PubMed  PubMed Central  Google Scholar 

Phillips MI, Tang Y, Schmidt-Ott K, Qian K, Kagiyama S. Vigilant vector: heart-specific promoter in an adeno-associated virus vector for cardioprotection. Hypertension. 2002;39:651–5.

CAS  PubMed  Google Scholar 

Lee CJ, Fan X, Guo X, Medin JA. Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease. J Cardiol. 2011;57:115–22.

PubMed  Google Scholar 

Gray SJ, Foti SB, Schwartz JW, Bachaboina L, Taylor-Blake B, Coleman J, et al. Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors. Hum Gene Ther. 2011;22:1143–53.

CAS  PubMed  PubMed Central  Google Scholar 

Damdindorj L, Karnan S, Ota A, Hossain E, Konishi Y, Hosokawa Y, et al. A comparative analysis of constitutive promoters located in adeno-associated viral vectors. PLoS ONE. 2014;9:e106472.

PubMed  PubMed Central  Google Scholar 

Barth AS, Kizana E, Smith RR, Terrovitis J, Dong P, Leppo MK, et al. Lentiviral vectors bearing the cardiac promoter of the Na+-Ca2+ exchanger report cardiogenic differentiation in stem cells. Mol Ther. 2008;16:957–64.

CAS  PubMed  Google Scholar 

Westhaus A, Cabanes-Creus M, Rybicki A, Baltazar G, Navarro RG, Zhu E, et al. High-Throughput in vitro, ex vivo, and in vivo screen of adeno-associated virus vectors based on physical and functional transduction. Hum Gene Ther. 2020;31:575–89.

CAS  PubMed  PubMed Central  Google Scholar 

Weinmann J, Weis S, Sippel J, Tulalamba W, Remes A, El Andari J, et al. Identification of a myotropic AAV by massively parallel in vivo evaluation of barcoded capsid variants. Nat Commun. 2020;11:5432.

CAS  PubMed  PubMed Central  Google Scholar 

Adachi K, Enoki T, Kawano Y, Veraz M, Nakai H. Drawing a high-resolution functional map of adeno-associated virus capsid by massively parallel sequencing. Nat Commun. 2014;5:3075.

PubMed  Google Scholar 

Marsic D, Mendez-Gomez HR, Zolotukhin S. High-accuracy biodistribution analysis of adeno-associated virus variants by double barcode sequencing. Mol Ther Methods Clin Dev. 2015;2:15041.

PubMed  PubMed Central  Google Scholar 

Kok CY, Tsurusaki S, Cabanes-Creus M, Igoor S, Rao R, Skelton R, et al. Development of new adeno-associated virus capsid variants for targeted gene delivery to human cardiomyocytes. Mol Ther Methods Clin Dev. 2023;30:459–73.

CAS  PubMed  PubMed Central  Google Scholar 

Farraha M, Rao R, Igoor S, Le TYL, Barry MA, Davey C, et al. Recombinant Adeno-Associated Viral Vector-Mediated Gene Transfer of hTBX18 Generates Pacemaker Cells from Ventricular Cardiomyocytes. Int J Mol Sci. 2022;23:9230.

Cabanes-Creus M, Navarro RG, Zhu E, Baltazar G, Liao SHY, Drouyer M, et al. Novel human liver-tropic AAV variants define transferable domains that markedly enhance the human tropism of AAV7 and AAV8. Mol Ther Methods Clin Dev. 2022;24:88–101.

CAS  PubMed  Google Scholar 

Aikawa R, Huggins GS, Snyder RO. Cardiomyocyte-specific gene expression following recombinant adeno-associated viral vector transduction. J Biol Chem. 2002;277:18979–85.

CAS  PubMed  Google Scholar 

Ma H, Sumbilla CM, Farrance IK, Klein MG, Inesi G. Cell-specific expression of SERCA, the exogenous Ca2+ transport ATPase, in cardiac myocytes. Am J Physiol Cell Physiol. 2004;286:C556–64.

CAS  PubMed  Google Scholar 

Prasad KM, Xu Y, Yang Z, Acton ST, French BA. Robust cardiomyocyte-specific gene expression following systemic injection of AAV: in vivo gene delivery follows a Poisson distribution. Gene Ther. 2011;18:43–52.

CAS  PubMed  Google Scholar 

Bezzerides VJ, Caballero A, Wang S, Ai Y, Hylind RJ, Lu F, et al. Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia by Inhibition of Ca(2+)/Calmodulin-Dependent Kinase II. Circulation. 2019;140:405–19.

CAS  PubMed  PubMed Central  Google Scholar 

van Opbergen CJM, Narayanan B, Sacramento CB, Stiles KM, Mishra V, Frenk E, et al. AAV-Mediated Delivery of Plakophilin-2a Arrests Progression of Arrhythmogenic Right Ventricular Cardiomyopathy in Murine Hearts: Preclinical Evidence Supporting Gene Therapy in Humans. Circ Genom Precis Med. 2024;17:e004305.

PubMed  PubMed Central  Google Scholar 

Asokan A, Conway JC, Phillips JL, Li C, Hegge J, Sinnott R, et al. Reengineering a receptor footprint of adeno-associated virus enables selective and systemic gene transfer to muscle. Nat Biotechnol. 2010;28:79–82.

CAS  PubMed  Google Scholar 

Ishikawa K, Fish KM, Tilemann L, Rapti K, Aguero J, Santos-Gallego CG, et al. Cardiac I-1c overexpression with reengineered AAV improves cardiac function in swine ischemic heart failure. Mol Ther. 2014;22:2038–45.

CAS  PubMed  PubMed Central  Google Scholar 

Phosphatase Inhibition by Intracoronary Gene Therapy in Subjects With Non-Ischemic NYHA Class III Heart Failure (GenePHIT). Available from: https://classic.clinicaltrials.gov/ct2/show/NCT05598333. Accessed January 2025.

Yang L, Liu Z, Chen G, Chen Z, Guo C, Ji X, et al. MicroRNA-122-Mediated Liver detargeting enhances the tissue specificity of cardiac genome editing. Circulation. 2024;149:1778–81.

CAS  PubMed  Google Scholar 

Azuma H, Paulk N, Ranade A, Dorrell C, Al-Dhalimy M, Ellis E, et al. Robust expansion of human hepatocytes in Fah-/-/Rag2-/-/Il2rg-/- mice. Nat Biotechnol. 2007;25:903–10.

CAS  PubMed  PubMed Central  Google Scholar 

Fagny M, Kuijjer ML, Stam M, Joets J, Turc O, Roziere J, et al. Identification of key tissue-specific, biological processes by integrating enhancer information in maize gene regulatory networks. Front Genet. 2020;11:606285.

CAS  PubMed  Google Scholar 

Sonawane AR, Platig J, Fagny M, Chen CY, Paulson JN, Lopes-Ramos CM, et al. Understanding tissue-specific gene regulation. Cell Rep. 2017;21:1077–88.

CAS  PubMed  PubMed Central  Google Scholar 

van Arensbergen J, van Steensel B, Bussemaker HJ. In search of the determinants of enhancer-promoter interaction specificity. Trends Cell Biol. 2014;24:695–702.

PubMed  PubMed Central  Google Scholar 

Malerba A, Sidoli C, Lu-Nguyen N, Herath S, Le Heron A, Abdul-Razak H, et al. Dose-dependent microdystrophin expression enhancement in cardiac muscle by a cardiac-specific regulatory element. Hum Gene Ther. 2021;32:1138–46.

CAS  PubMed  Google Scholar