Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.

@article{Pecina2003FunctionalAO,
  title={Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.},
  author={Petr Pecina and Mark{\'e}ta {\vC}apkov{\'a} and Subir Chowdhury and Zdeněk Drahota and Audrey Dubot and Alena Vojt{\'i}{\vs}kov{\'a} and Hana Hansikova and Hana Houst'kov{\'a} and J Jan Zeman and Catherine Godinot and Josef Hou{\vs}těk},
  journal={Biochimica et biophysica acta},
  year={2003},
  volume={1639 1},
  pages={
          53-63
        }
}
Subacute necrotising encephalomyopathy (Leigh syndrome) due to cytochrome c oxidase (COX) deficiency is often caused by mutations in the SURF1 gene, encoding the Surf1 protein essential for COX assembly. We have investigated five patients with different SURF1 mutations resulting in the absence of Surf1 protein. All of them presented with severe and generalised COX defect. Immunoelectrophoretic analysis of cultured fibroblasts revealed 85% decrease of the normal-size COX complexes and… CONTINUE READING
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