Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy.

@article{Amo2015MitochondrialDA,
  title={Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy.},
  author={V{\'i}ctor L{\'o}pez del Amo and Marta Seco-Cervera and Jos{\'e} Luis Garc{\'i}a-Gim{\'e}nez and Alexander J Whitworth and Federico Vicente Pallard{\'o} and M{\'a}ximo I Galindo},
  journal={Human molecular genetics},
  year={2015},
  volume={24 1},
  pages={
          21-36
        }
}
One of the genes involved in Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy, is GDAP1. In this work, we show that there is a true ortholog of this gene in Drosophila, which we have named Gdap1. By up- and down-regulation of Gdap1 in a tissue-specific manner, we show that altering its levels of expression produces changes in mitochondrial size, morphology and distribution, and neuronal and muscular degeneration. Interestingly, muscular degeneration is tissue-autonomous and… CONTINUE READING
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