Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.

@article{Ghosh2014CopperSR,
  title={Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency.},
  author={Alok Ghosh and Prachi P Trivedi and Shrishiv A Timbalia and Aaron T Griffin and Jennifer J. Rahn and Sherine S. L. Chan and Vishal M Gohil},
  journal={Human molecular genetics},
  year={2014},
  volume={23 13},
  pages={3596-606}
}
Mitochondrial respiratory chain biogenesis is orchestrated by hundreds of assembly factors, many of which are yet to be discovered. Using an integrative approach based on clues from evolutionary history, protein localization and human genetics, we have identified a conserved mitochondrial protein, C1orf31/COA6, and shown its requirement for respiratory complex IV biogenesis in yeast, zebrafish and human cells. A recent next-generation sequencing study reported potential pathogenic mutations… CONTINUE READING
22 Citations
51 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 22 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 51 references

Similar Papers

Loading similar papers…