Publication: Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C
Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C
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Martinez-Navajas, G., Ceron-Hernandez, J., Simon, I., Lupiañez, P., Diaz-McLynn, S., Perales, S., Modlich, U., Guerrero, J. A., Martin, F., Sevivas, T., Lozano, M. L., Rivera, J., Ramos-Mejia, V., Tersteeg, C., & Real, P. J. (2023). Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C. Molecular Therapy : Nucleic Acids, 33, 75–92. https://doi.org/10.1016/j.omtn.2023.06.008
Abstract
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Abstract
Bernard-Soulier syndrome (BSS) is a rare congenital disease characterized by macrothrombocytopenia and frequent bleeding. It is caused by pathogenic variants in three genes (GP1BA, GP1BB, or GP9) that encode for the GPIbα, GPIbβ, and GPIX subunits of the GPIb-V-IX complex, the main platelet surface receptor for von Willebrand factor, being essential for platelet adhesion and aggregation. According to the affected gene, we distinguish BSS type A1 (GP1BA), type B (GP1BB), or type C (GP9). Pathogenic variants in these genes cause absent,
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- Martinez-Navajas, Gonzalo
- Ceron-Hernandez, Jorge
- Simon, Iris
- Lupiañez, Pablo
- Diaz-McLynn, Sofia
- Perales, Sonia
- Modlich, Ute
- Guerrero, Jose A
- Martin, Francisco
- Sevivas, Teresa
- Lozano, Maria L
- Rivera, Jose
- Ramos-Mejia, Veronica
- Tersteeg, Claudia
- Real, Pedro J
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Martinez-Navajas, G., Ceron-Hernandez, J., Simon, I., Lupiañez, P., Diaz-McLynn, S., Perales, S., Modlich, U., Guerrero, J. A., Martin, F., Sevivas, T., Lozano, M. L., Rivera, J., Ramos-Mejia, V., Tersteeg, C., & Real, P. J. (2023). Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C. Molecular Therapy : Nucleic Acids, 33, 75–92. https://doi.org/10.1016/j.omtn.2023.06.008
