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Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the TYMP gene, which encodes thymidine phosphorylase (TP). TP dysfunction results in systemic thymidine (dThd) and deoxyuridine (dUrd) overload, which selectively impair mitochondr...

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Dettagli Bibliografici
Pubblicato in:Gene Ther
Autori principali: Torres-Torronteras, J, Gómez, A, Eixarch, H, Palenzuela, L, Pizzorno, G, Hirano, M, Andreu, AL, Barquinero, J, Martí, R
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7568345/
https://ncbi.nlm.nih.gov/pubmed/21451581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gt.2011.24
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