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- W2023285989 abstract "La porphyrie érythropoïétique congénitale (PEC) est une maladie génétique hématologique transmise sur le mode autosomique récessif caractérisée par une synthèse accrue et une accumulation de porphyrines dans la moelle osseuse. Actuellement, le seul traitement curatif disponible est la transplantation médullaire. Lorsque celle-ci n'est pas possible (absence d'un donneur compatible), la greffe de cellules hématopoïétiques génétiquement modifiées ou thérapie génique est une alternative envisageable dans le futur. Nous rapportons un certain nombre d'expériences in vitro démonstrant la correction du déficit enzymatique et la correction métabolique par transfert rétroviral dans des cellules de patients atteints de PEC. La disponibilité future d'un modèle murin de la maladie doit nous permettre une thérapie génique ex vivo sur l'animal entier. CEP is a rare disease inherited as an autosomal recessive trait and characterized by an overproduction and accumulation of porphyrins in the bone-marrow. Because the predominant site of metabolic expression of the disease is the erythropoietic system, bone marrow transplantation represents a curative treatment for patients with severe phenotypes. This treatment can be considered in severe cases when the disease appears in the first few years of life. When bone marrow transplantation is not possible, gene therapy by transplantation of genetically modified hematopoietic cells is an attractive alternative for the future. In this report, we present the restoration of enzymatic activity and the metabolic correction of deficient cells in vitro after transduction with retroviral vectors. The future availability of a mouse model of the disease will permit ex vivo gene therapy experiments on the entire animal." @default.
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- W2023285989 title "Modèle de la porphyrie érythropoïétique congénitale pour le transfert de gènes dans les cellules hématopoïétiques" @default.
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- W2023285989 doi "https://doi.org/10.1016/s1246-7820(97)80050-x" @default.
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