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Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation

Deficiency of thymidine kinase 2 (TK2) is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mtDNA) depletion. To determine the bases of disease onset, organ specificity and severity of TK2 deficiency, we have carefully characterized Tk2 H126N knockin mice...

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Main Authors: Dorado, Beatriz, Area, Estela, Akman, Hasan O., Hirano, Michio
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2011
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3000681/
https://ncbi.nlm.nih.gov/pubmed/20940150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq453
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