Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.

@article{Hangen2015InteractionBA,
  title={Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.},
  author={Emilie Hangen and Olivier F{\'e}raud and Sylvie Lachkar and Haiwei Mou and Nunzianna Doti and Gian Maria Fimia and Ngoc-Vy Lam and Changlian Zhu and Isabelle Godin and Kevin Muller and Afroditi Chatzi and Esther Nuebel and Fabiola Ciccosanti and St{\'e}phane Flamant and Paule B{\'e}nit and Jean-Luc Perfettini and Allan Sauvat and Annelise Bennaceur-Griscelli and Karine Ser-Le Roux and Patrick Gonin and Kostas Tokatlidis and Pierre Rustin and Mauro Piacentini and Menotti Ruvo and Klas Blomgren and Guido Kroemer and Nazanine Modjtahedi},
  journal={Molecular cell},
  year={2015},
  volume={58 6},
  pages={1001-14}
}
Apoptosis-inducing factor (AIF) is a mitochondrial flavoprotein that, beyond its apoptotic function, is required for the normal expression of major respiratory chain complexes. Here we identified an AIF-interacting protein, CHCHD4, which is the central component of a redox-sensitive mitochondrial intermembrane space import machinery. Depletion or hypomorphic mutation of AIF caused a downregulation of CHCHD4 protein by diminishing its mitochondrial import. CHCHD4 depletion sufficed to induce a… CONTINUE READING
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ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

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