Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.

@article{Nouws2012AssemblyFA,
  title={Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.},
  author={J. F. M. Nouws and Leo G. J. Nijtmans and Jan A M Smeitink and Rutger O. Vogel},
  journal={Brain : a journal of neurology},
  year={2012},
  volume={135 Pt 1},
  pages={12-22}
}
Complex I deficiency is the most frequent cause of oxidative phosphorylation disorders. The disease features a large diversity of clinical symptoms often leading to progressive encephalomyopathies with a fatal outcome. There is currently no cure, and although disease-causing mutations have been found in the genes encoding complex I subunits, half of the cases remain unexplained. However, in the past 5 years a new class of complex I disease genes has emerged with the finding of specific assembly… CONTINUE READING
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Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients

  • RO Vogel, MA van den Brand, RJ Rodenburg, LP van den Heuvel, M Tsuneoka, JA Smeitink
  • Mol Genet Metab
  • 2007
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