CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration

@inproceedings{GonzalezSanchez2017CMTlinkedLM,
  title={CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration},
  author={P. Gonzalez-Sanchez and David Pla-Mart{\'i}n and Paula Mart{\'i}nez-Valero and Carlos B Rueda and Eduardo Calpena and Araceli del Arco and F. Palau and Jorgina Satr{\'u}stegui},
  booktitle={Scientific reports},
  year={2017}
}
GDAP1 is an outer mitochondrial membrane protein involved in Charcot-Marie-Tooth (CMT) disease. Lack of GDAP1 gives rise to altered mitochondrial networks and endoplasmic reticulum (ER)-mitochondrial interactions resulting in a decreased ER-Ca2+ levels along with a defect on store-operated calcium entry (SOCE) related to a misallocation of mitochondria to subplasmalemmal sites. The defect on SOCE is mimicked by MCU silencing or mitochondrial depolarization, which prevent mitochondrial calcium… CONTINUE READING
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