Maternally‐inherited Leigh syndrome‐related mutations bolster mitochondrial‐mediated apoptosis

@article{Carrozzo2004MaternallyinheritedLS,
  title={Maternally‐inherited Leigh syndrome‐related mutations bolster mitochondrial‐mediated apoptosis},
  author={Rosalba Carrozzo and Teresa Rizza and Annarita Stringaro and Roberta Pierini and Elisabetta Mormone and Filippo Maria Santorelli and Walter Malorni and Paola Matarrese},
  journal={Journal of Neurochemistry},
  year={2004},
  volume={90}
}
The key role of mitochondria in the apoptotic process is well understood, but not many data are available regarding the specific role of mitochondrial DNA mutations in determining cell fate. We investigated whether two mitochondrial DNA mutations (L217R and L156R) associated with maternally‐inherited Leigh syndrome may play a specific role in triggering the apoptotic cascade. Considering that different nuclear genetic factors may influence the expression of mtDNA mutations, we used a 143BTK… 
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