The Variability of the Harlequin Mouse Phenotype Resembles that of Human Mitochondrial-Complex I-Deficiency Syndromes

@article{Bnit2008TheVO,
  title={The Variability of the Harlequin Mouse Phenotype Resembles that of Human Mitochondrial-Complex               I-Deficiency Syndromes},
  author={Paule B{\'e}nit and Sergio Henrique Le{\~a}o Gonçalves and Emmanuel Philippe Dassa and J Bri{\`e}re and Pierre Rustin},
  journal={PLoS ONE},
  year={2008},
  volume={3},
  pages={1777 - 83}
}
BACKGROUND Despite the considerable progress made in understanding the molecular bases of mitochondrial diseases, no effective treatments have been developed to date. Faithful animal models would be extremely helpful for designing such treatments. We showed previously that the Harlequin mouse phenotype was due to a specific mitochondrial complex I deficiency resulting from the loss of the Apoptosis Inducing Factor (Aif) protein. METHODOLOGY/PRINCIPAL FINDINGS Here, we conducted a detailed… CONTINUE READING