The Pathophysiology of LETM1

@inproceedings{Nowikovsky2012ThePO,
  title={The Pathophysiology of LETM1},
  author={Karin Nowikovsky and Tullio Pozzan and Rosario Rizzuto and Luca Scorrano and Paolo Bernardi},
  booktitle={The Journal of general physiology},
  year={2012}
}
Originally identified as a key element of mitochondrial volume homeostasis through regulation of K + –H + exchange (KHE), the LETM1 protein family is also involved in respiratory chain biogenesis and in the pathogenesis of seizures in the Wolf–Hirschhorn syndrome (WHS). To add further complexity, LETM1 has been recently proposed to catalyze mitochondrial H + –Ca 2+ exchange, which would imply a role in mitochondrial Ca 2+ homeo-stasis as well. In the following paragraphs, we summarize the… CONTINUE READING
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