Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a metabolic disorder caused by mutations in TYMP, encoding thymidine phosphorylase (TP). In MNGIE patients, TP dysfunction produces systemic thymidine and deoxyuridine accumulation, which ultimately impairs mitochondrial DNA replicatio...

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Detalhes bibliográficos
Publicado no:Hum Gene Ther
Main Authors: Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Barba, Ignasi, Costa, Carme, de Luna, Noemí, Andreu, Antoni L., Barquinero, Jordi, Hirano, Michio, Cámara, Yolanda, Martí, Ramon
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2016
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5079415/
https://ncbi.nlm.nih.gov/pubmed/27004974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/hum.2015.160
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