Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome.

@article{Quintana2010ComplexID,
  title={Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome.},
  author={Albert Quintana and Shane E. Kruse and Raj P Kapur and Elisenda Sanz and Richard D Palmiter},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2010},
  volume={107 24},
  pages={10996-1001}
}
To explore the lethal, ataxic phenotype of complex I deficiency in Ndufs4 knockout (KO) mice, we inactivated Ndufs4 selectively in neurons and glia (NesKO mice). NesKO mice manifested the same symptoms as KO mice including retarded growth, loss of motor ability, breathing abnormalities, and death by approximately 7 wk. Progressive neuronal deterioration and gliosis in specific brain areas corresponded to behavioral changes as the disease advanced, with early involvement of the olfactory bulb… CONTINUE READING

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