Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

@article{Saada2001MutantMT,
  title={Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy},
  author={Ann Saada and Avraham Shaag and Hanna Mandel and Yoram Nevo and Staffan K Eriksson and Orly Elpeleg},
  journal={Nature Genetics},
  year={2001},
  volume={29},
  pages={342-344}
}
The mitochondrial deoxyribonucleotide (dNTP) pool is separated from the cytosolic pool because the mitochondria inner membrane is impermeable to charged molecules. The mitochondrial pool is maintained by either import of cytosolic dNTPs through dedicated transporters or by salvaging deoxynucleosides within the mitochondria; apparently, enzymes of the de novo dNTP synthesis pathway are not present in the mitochondria. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated… 

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