Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

@article{Baracca2007BiochemicalPA,
  title={Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.},
  author={Alessandra Baracca and Gianluca Sgarbi and Marina Mattiazzi and Gabriella A Casalena and Eleonora Pagnotta and M L Valentino and M. Moggio and Giorgio Lenaz and V Carelli and Giancarlo Solaini},
  journal={Biochimica et biophysica acta},
  year={2007},
  volume={1767 7},
  pages={913-9}
}
Two point mutations (T>G and T>C) at the same 8993 nucleotide of mitochondrial DNA (at comparable mutant load), affecting the ATPase 6 subunit of the F1F0-ATPase, result in neurological phenotypes of variable severity in humans. We have investigated mitochondrial function in lymphocytes from individuals carrying the 8993T>C mutation: the results were compared with data from five 8993T>G NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) patients. Both 8993T>G and 8993T>C mutations led to energy… CONTINUE READING
29 Citations
29 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 29 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 29 references

Measuring mitochondrial reactive oxygen species

  • M. Degli Esposti
  • Methods 26
  • 2002
Highly Influential
4 Excerpts

M

  • E. Morava, R. J. Rodenburg, F. Hol
  • de Vries, A. Janssen, L. van den Heuvel, L…
  • 2006
1 Excerpt

C

  • A. A. Starkov, G. Fiskum
  • Chinopoulos, B.J. Lorenzo, S.F. Browne,M.S. Patel…
  • 2004
1 Excerpt

Similar Papers

Loading similar papers…