Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles.

@article{Hanson2001CytochromeCO,
  title={Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles.},
  author={Bonnie J Hanson and Rosalba Carrozzo and Fiorella Piemonte and Alessandra Tessa and B. H. Robinson and Roderick A. Capaldi},
  journal={The Journal of biological chemistry},
  year={2001},
  volume={276 19},
  pages={16296-301}
}
Cytochrome c oxidase (COX) deficiency is the most common respiratory chain defect in childhood and is clinically heterogeneous. We report a study of six patients with COX deficiencies. Two of the patients had as yet undefined defects, three patients had Surf-1 mutations, and one patient had a 15-base pair deletion in the COX III subunit. We show that quantitative measurements of steady-state levels of subunits by monoclonal antibody reactivity, when used in combination with a discontinuous… CONTINUE READING
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