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Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration
Mutations of thymidine kinase 2 (TK2), an essential component of the mitochondrial nucleotide salvage pathway, can give rise to mitochondrial DNA (mtDNA) depletion syndromes (MDS). These clinically heterogeneous disorders are characterized by severe reduction in mtDNA copy number in affected tissues...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2850617/ https://ncbi.nlm.nih.gov/pubmed/20123860 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq043 |
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