Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.

@article{Guillet2011BioenergeticDA,
  title={Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.},
  author={Virginie Guillet and Na{\"i}g Gu{\'e}guen and Romain Cartoni and Arnaud Chevrollier and Val{\'e}rie Desquiret and Claire Angebault and Patrizia Amati-Bonneau and Vincent Procaccio and D. Bonneau and J C Martinou and Pascal Reynier},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2011},
  volume={25 5},
  pages={1618-27}
}
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2), which encodes a mitochondrial outer membrane protein that promotes mitochondrial fusion. Emerging evidence also points to a role of MFN2 in the regulation of mitochondrial metabolism. To examine whether mitochondrial dysfunction is a feature of CMT2A, we used a transgenic mouse model expressing in neurons a mutated R94Q form of human MFN2… CONTINUE READING