SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

@article{Coenen1999SURFEIT1GA,
  title={SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.},
  author={Marieke J. H. Coenen and Lambert P. W. J. van den Heuvel and Leo G. J. Nijtmans and Eva Morava and Iris Marquardt and Hemann Josef Girschick and Frans J. M. Trijbels and L. A. Grivell and Jan A M Smeitink},
  journal={Biochemical and biophysical research communications},
  year={1999},
  volume={265 2},
  pages={339-44}
}
Leigh syndrome, a progressive, often fatal, neurodegenerative disorder, is frequently associated with a deficiency in the activity of cytochrome c oxidase (COX), the last enzyme of the mitochondrial respiratory chain. In contrast to NADH:ubiquinone oxidoreductase and succinate dehydrogenase deficiencies, no mutations in nuclear genes encoding COX subunits have been identified thus far. Very recently, however, a Leigh syndrome complementation group has been identified which showed mutations in… CONTINUE READING

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