Correction of murine bernard-soulier syndrome by lentivirus-mediated gene therapy

Molecular Therapy

Volumn 20, Issue 3, 2012, Pages 625-632

  Kanaji, Sachiko ^a   Kuether, Erin L ^a,b,c   Fahs, Scot A ^a   Schroeder, Jocelyn A ^a,b,c   Ware, Jerry ^d   Montgomery, Robert R ^a,b,c   Shi, Qizhen ^a,b,c  

^a BLOOD RESEARCH INSTITUTE   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c Children's Hospital of Wisconsin   (United States)

^d UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IIB IB ALPHA; LENTIVIRUS VECTOR; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIBODY RESPONSE; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING TIME; BONE MARROW TRANSPLANTATION; CONTROLLED STUDY; DRUG EFFICACY; HEMATOPOIETIC STEM CELL; IMMUNE RESPONSE; IMMUNOPRECIPITATION; MOUSE; NONHUMAN; PHENOTYPE; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SIGNAL TRANSDUCTION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; TRANSGENE; VIRAL GENE DELIVERY SYSTEM;

LENTIVIRUS; MURINAE; MUS;

EID: 84857781525     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2011.231     Document Type: Article

References (38)

1. Bernard, J and Soulier, JP (1948). [Not Available]. Sem Hop 24(Spec. No.): 3217-3223.
2. Nurden, P and Nurden, AT (2008). Congenital disorders associated with platelet dysfunctions. Thromb Haemost 99: 253-263. (Pubitemid 351230953)
3. Clemetson, KJ, McGregor, JL, James, E, Dechavanne, M and Lüscher, EF (1982). Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis. J Clin Invest 70: 304-311. (Pubitemid 12042629)
4. Hagen, I, Nurden, A, Bjerrum, OJ, Solum, NO, and Caen, J (1980). Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann's thrombasthenia and Bernard-Soulier syndrome. J Clin Invest 65: 722-731. (Pubitemid 10179735)
5. López, JA, Andrews, RK, Afshar-Kharghan, V and Berndt, MC (1998). Bernard-Soulier syndrome. Blood 91: 4397-4418. (Pubitemid 28270285)
6. Locatelli, F, Rossi, G and Balduini, C (2003). Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome. Ann Intern Med 138: 79. (Pubitemid 36232102)
7. Ozelo, MC, Svirin, P and Larina, L (2005). Use of recombinant factor VIIa in the management of severe bleeding episodes in patients with Bernard-Soulier syndrome. Ann Hematol 84: 816-822. (Pubitemid 43008557)
8. Peters, M and Heijboer, H (1998). Treatment of a patient with Bernard-Soulier syndrome and recurrent nosebleeds with recombinant factor VIIa. Thromb Haemost 80: 352. (Pubitemid 28393644)
9. White, GC 2nd (2006). Congenital and acquired platelet disorders: current dilemmas and treatment strategies. Semin Hematol 43(1 Suppl 1): S37-S41. (Pubitemid 43150498)
10. Lopez-Vilchez, I, Hedner, U, Altisent, C, Diaz-Ricart, M, Escolar, G and Galan, AM (2011). Redistribution and hemostatic action of recombinant activated factor VII associated with platelets. Am J Pathol 178: 2938-2948.
11. Aljamali MN, Margaritis, P, Arruda VR, Schlachterman A, Dunn D, Ware J et al. (2006). Gene transfer-mediated expression of murine factor VIIa improves clot formation in a mouse model for Bernard-Soulier syndrome. Mol Ther 13: S28.
12. Rieger, C, Rank, A, Fiegl, M, Tischer, J, Schiel, X, Ostermann, H et al. (2006). Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome. Thromb Haemost 95: 190-191.
13. Balduini, CL, Iolascon, A and Savoia, A (2002). Inherited thrombocytopenias: from genes to therapy. Haematologica 87: 860-880. (Pubitemid 34851558)
14. Wilcox, DA, Olsen, JC, Ishizawa, L, Bray, PF, French, DL, Steeber, DA et al. (2000). Megakaryocyte-targeted synthesis of the integrin (3)-subunit results in the phenotypic correction of Glanzmann thrombasthenia. Blood 95: 3645-3651.
15. Wilcox, DA, Shi, Q, Nurden, P, Haberichter, SL, Rosenberg, JB, Johnson, BD et al. (2003). Induction of megakaryocytes to synthesize and store a releasable pool of human factor VIII. J Thromb Haemost 1: 2477-2489.
16. Makris, M, Colvin, B, Gupta, V, Shields, ML and Smith, MP (2002). Venous thrombosis following the use of intermediate purity FVIII concentrate to treat patients with von Willebrand's disease. Thromb Haemost 88: 387-388. (Pubitemid 35021594)
17. Shi, Q, Wilcox, DA, Fahs, SA, Weiler, H, Wells, CW, Cooley, BC et al. (2006). Factor VIII ectopically targeted to platelets is therapeutic in hemophilia A with high-titer inhibitory antibodies. J Clin Invest 116: 1974-1982. (Pubitemid 44033321)
18. Shi, Q, Wilcox, DA, Fahs, SA, Fang, J, Johnson, BD, DU, LM et al. (2007). Lentivirusmediated platelet-derived factor VIII gene therapy in murine haemophilia A. J Thromb Haemost 5: 352-361. (Pubitemid 46139461)
19. Shi, Q, Wilcox, DA, Morateck, PA, Fahs, SA, Kenny, D and Montgomery, RR (2004). Targeting platelet GPIbαtransgene expression to human megakaryocytes and forming a complete complex with endogenous GPIbαand GPIX. J Thromb Haemost 2: 1989-1997. (Pubitemid 40192753)
20. Ware, J, Russell, S and Ruggeri, ZM (2000). Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. Proc Natl Acad Sci USA 97: 2803-2808. (Pubitemid 30159252)
21. Wilcox, DA, Olsen, JC, Ishizawa, L, Griffith, M and White, GC 2nd (1999). Integrin IIb promoter-targeted expression of gene products in megakaryocytes derived from retrovirus-transduced human hematopoietic cells. Proc Natl Acad Sci USA 96: 9654-9659. (Pubitemid 29398787)
22. Fang, J, Hodivala-Dilke, K, Johnson, BD, Du, LM, Hynes, RO, White, GC 2nd et al. (2005). Therapeutic expression of the platelet-specific integrin, IIb̈3, in a murine model for Glanzmann thrombasthenia. Blood 106: 2671-2679. (Pubitemid 41510739)
23. Shi, Q, Wilcox, DA, Fahs, SA, Kroner, PA and Montgomery, RR (2003). Expression of human factor VIII under control of the platelet-specific IIb promoter in megakaryocytic cell line as well as storage together with VWF. Mol Genet Metab 79: 25-33. (Pubitemid 36579438)
24. Kanaji, T, Russell, S and Ware, J (2002). Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. Blood 100: 2102-2107. (Pubitemid 35001244)
25. Shi, Q and Montgomery, RR (2010). Platelets as delivery systems for disease treatments. Adv Drug Deliv Rev 62: 1196-1203.
26. Hayward, CP, Rao, AK and Cattaneo, M (2006). Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia 12 Suppl 3: 128-136.
27. Alamelu, J and Liesner, R (2010). Modern management of severe platelet function disorders. Br J Haematol 149: 813-823.
28. Kanaji, T, Okamura, T, Kurolwa, M, Noda, M, Fujimura, K, Kuramoto, A et al. (1997). Molecular and genetic analysis of two patients with Bernard-Soulier syndrome-identification of new mutations in glycoprotein Ibαgene. Thromb Haemost 77: 1055-1061. (Pubitemid 27311968)
29. Kenny, D, Newman, PJ, Morateck, PA and Montgomery, RR (1997). A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib αin a novel form of Bernard-Soulier syndrome. Blood 90: 2626-2633. (Pubitemid 27413472)
30. Kunishima, S, Miura, H, Fukutani, H, Yoshida, H, Osumi, K, Kobayashi, S et al. (1994). Bernard-Soulier syndrome Kagoshima: Ser 444-〉stop mutation of glycoprotein (GP) Ib αresulting in circulating truncated GPIb αand surface expression of GPIb αand GPIX. Blood 84: 3356-3362. (Pubitemid 24352897)
31. Afshar-Kharghan, V and López, JA (1997). Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib αtransmembrane domain. Blood 90: 2634-2643. (Pubitemid 27413473)
32. Kenny, D, Jónsson, OG, Morateck, PA and Montgomery, RR (1998). Naturally occurring mutations in glycoprotein Ib αthat result in defective ligand binding and synthesis of a truncated protein. Blood 92: 175-183. (Pubitemid 28303190)
33. Montini, E, Cesana, D, Schmidt, M, Sanvito, F, Ponzoni, M, Bartholomae, C et al. (2006). Hematopoietic stem cell gene transfer in a tumor-prone mouse model uncovers low genotoxicity of lentiviral vector integration. Nat Biotechnol 24: 687-696. (Pubitemid 43882120)
34. De Palma, M, Montini, E, Santoni de Sio, FR, Benedicenti, F, Gentile, A, Medico, E et al. (2005). Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells. Blood 105: 2307-2315. (Pubitemid 40387024)
35. Manilla, P, Rebello, T, Afable, C, Lu, X, Slepushkin, V, Humeau, LM et al. (2005). Regulatory considerations for novel gene therapy products: a review of the process leading to the first clinical lentiviral vector. Hum Gene Ther 16: 17-25. (Pubitemid 40250328)
36. Chang, AH and Sadelain, M (2007). The genetic engineering of hematopoietic stem cells: the rise of lentiviral vectors, the conundrum of the ltr, and the promise of lineage-restricted vectors. Mol Ther 15: 445-456.
37. Gonzalez-Murillo, A, Lozano, ML, Montini, E, Bueren, JA and Guenechea, G (2008). Unaltered repopulation properties of mouse hematopoietic stem cells transduced with lentiviral vectors. Blood 112: 3138-3147.
38. Rathore, V, Stapleton, MA, Hillery, CA, Montgomery, RR, Nichols, TC, Merricks, EP et al. (2003). PECAM-1 negatively regulates GPIb/V/IX signaling in murine platelets. Blood 102: 3658-3664. (Pubitemid 37409385)