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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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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2011
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| Schlagworte: | |
| Online Zugang: | 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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