Gene-Based Therapy for Alpha-1 Antitrypsin Deficiency

References

• McElvaney NG, Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. Chest 1997; 111:394–403.
   PubMed Web of Science ®Google Scholar
• Brigham KL, Transfection of nasal mucosa with a normal alpha1-antitrypsin gene in alpha1-antitrypsin-deficient subjects: comparison with protein therapy. Hum Gene Ther 2000; 11:1023–1032, doi: 10.1089/10430340050015338.
   PubMed Web of Science ®Google Scholar
• Canonico AE, Conary JT, Meyrick BO, Brigham KL. Aerosol and intravenous transfection of human alpha 1-antitrypsin gene to lungs of rabbits. Amer J Respir Cell Mol Biol 1994; 10:24–29.
   PubMed Web of Science ®Google Scholar
• Canonico AE, Plitman JD, Conary JT, Meyrick BO, Brigham KL. No lung toxicity after repeated aerosol or intravenous delivery of plasmid-cationic liposome complexes. J Appl Physiol 1994; 77:415–419.
   PubMed Web of Science ®Google Scholar
• Ruiz FE, A clinical inflammatory syndrome attributable to aerosolized lipid-DNA administration in cystic fibrosis. Hum Gene Ther 2001; 12:751–761, doi: 10.1089/104303401750148667.
   PubMed Web of Science ®Google Scholar
• Grossman M, Raper SE, Wilson JM. Transplantation of genetically modified autologous hepatocytes into nonhuman primates: feasibility and short-term toxicity. Hum Gene Ther 1992; 3:501–510, doi: 10.1089/hum.1992.3.5-501.
   PubMed Web of Science ®Google Scholar
• Stoll SM, Epstein-Barr virus/human vector provides high-level, long-term expression of alpha1-antitrypsin in mice. Mol Ther 2001; 4:122–129, doi: 10.1006/mthe.2001.0429.
   PubMed Web of Science ®Google Scholar
• Cavazzana-Calvo M, Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 2000; 288:669–672.
   PubMed Web of Science ®Google Scholar
• Hacein-Bey-Abina S, Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 2008; 118:3132–3142.
   PubMed Web of Science ®Google Scholar
• Flotte T, A phase I study of an adeno-associated virus-CFTR gene vector in adult CF patients with mild lung disease. Hum Gene Ther 1996; 7:1145–1159, doi: 10.1089/hum.1996.7.9-1145.
   PubMed Web of Science ®Google Scholar
• Xiao W, Adeno-associated virus as a vector for liver-directed gene therapy. J Virol 1998; 72:10222–10226.
   PubMed Web of Science ®Google Scholar
• Song S, Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc Natl Acad Sci USA 1998; 95:14384–14388.
   PubMed Web of Science ®Google Scholar
• Kessler PD, Gene delivery to skeletal muscle results in sustained expression and systemic delivery of a therapeutic protein. Proc Natl Acad Sci USA 1996; 93:14082–14087.
   PubMed Web of Science ®Google Scholar
• Monahan PE, Direct intramuscular injection with recombinant AAV vectors results in sustained expression in a dog model of hemophilia. Gene Ther 1998; 5:40–49.
   PubMed Web of Science ®Google Scholar
• Herzog RW, Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus. Proc Natl Acad Sci USA 1997; 94:5804–5809.
   PubMed Web of Science ®Google Scholar
• Song S, DNA-dependent PK inhibits adeno-associated virus DNA integration. Proc Natl Acad Sci USA 2004; 101:2112–2116.
   PubMed Web of Science ®Google Scholar
• Song S, Laipis PJ, Berns KI, Flotte TR. Effect of DNA-dependent protein kinase on the molecular fate of the rAAV2 genome in skeletal muscle. Proc Natl Acad Sci USA 2001; 98:4084–4088.
   PubMed Web of Science ®Google Scholar
• Halbert CL, Expression of human alpha1-antitrypsin in mice and dogs following AAV6 vector-mediated gene transfer to the lungs. Mol Ther 2010; 18:1165–1172.
   PubMed Web of Science ®Google Scholar
• De B, Intrapleural administration of a serotype 5 adeno-associated virus coding for alpha1-antitrypsin mediates persistent, high lung and serum levels of alpha1-antitrypsin. Mol Ther 2004; 10:1003–1010, doi: 10.1016/j.ymthe.2004.08.022.
   PubMed Web of Science ®Google Scholar
• De BP, High levels of persistent expression of alpha1-antitrypsin mediated by the nonhuman primate serotype rh.10 adeno-associated virus despite preexisting immunity to common human adeno-associated viruses. Mol Ther: J Amer Soc Gene Ther 2006; 13:67–76, doi: 10.1016/j.ymthe.2005.09.003.
   PubMed Web of Science ®Google Scholar
• Watanabe M, Boyer JL, Crystal RG. AAVrh.10-mediated genetic delivery of bevacizumab to the pleura to provide local anti-VEGF to suppress growth of metastatic lung tumors. Gene Ther 2010; 17:1042–1051, doi: 10.1038/gt.2010.87.
   PubMed Web of Science ®Google Scholar
• Cruz PE, In vivo post-transcriptional gene silencing of alpha-1 antitrypsin by adeno-associated virus vectors expressing siRNA. Lab Invest 2007; 87:893–902, doi: 10.1038/labinvest.3700629.
   PubMed Web of Science ®Google Scholar
• Ozaki I, Ribozyme-mediated specific gene replacement of the alpha1-antitrypsin gene in human hepatoma cells. J Hepatol 1999; 31:53–60.
   PubMed Web of Science ®Google Scholar
• Grimm D, Fatality in mice due to oversaturation of cellular microRNA/short hairpin RNA pathways. Nature 2006; 441:537–541, doi: 10.1038/nature04791.
   PubMed Web of Science ®Google Scholar
• Li C, Xiao P, Gray SJ, Weinberg MS, Samulski RJ. Combination therapy utilizing shRNA knockdown and an optimized resistant transgene for rescue of diseases caused by misfolded proteins. Proc Natl Acad Sci USA 2011; 108:14258–14263, doi: 10.1073/pnas.1109522108.
   PubMed Web of Science ®Google Scholar
• Mueller C, Sustained miRNA-mediated knockdown of mutant AAT with simultaneous augmentation of wild-type AAT has minimal effect on global liver miRNA profiles. Mol Ther 2012; 20:590–600, doi: 10.1038/mt.2011.292.
   PubMed Web of Science ®Google Scholar