Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

@article{Ling2007PathogenicMO,
  title={Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.},
  author={Jiqiang Ling and Herv{\'e} Roy and Daoming Qin and Mary Anne T. Rubio and Juan D. Alfonzo and Kurt Fredrick and Michael Ibba},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2007},
  volume={104 39},
  pages={15299-304}
}
Human mitochondrial tRNA (hmt-tRNA) mutations are associated with a variety of diseases including mitochondrial myopathies, diabetes, encephalopathies, and deafness. Because the current understanding of the precise molecular mechanisms of these mutations is limited, there is no efficient method to treat their associated mitochondrial diseases. Here, we use a variety of known mutations in hmt-tRNA(Phe) to investigate the mechanisms that lead to malfunctions. We tested the impact of hmt-tRNA(Phe… CONTINUE READING