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Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency

BACKGROUND: TK2 is a nuclear gene encoding the mitochondrial matrix protein thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial nucleotide salvage pathway. Deficiency of TK2 activity causes mitochondrial DNA (mtDNA) depletion, which in humans manifests predominantly as a mitochondrial m...

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Detalles Bibliográficos
Autores principales: Lopez-Gomez, Carlos, Hewan, Henly, Sierra, Carlos, Akman, Hasan O., Sanchez-Quintero, Maria J., Juanola-Falgarona, Marti, Tadesse, Saba, Tanji, Kurenai, Konofagou, Elisa E., Hirano, Michio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710986/
https://www.ncbi.nlm.nih.gov/pubmed/31383553
http://dx.doi.org/10.1016/j.ebiom.2019.07.037