- CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca
Scientific reports (2017-02-22)
Paloma González-Sánchez, David Pla-Martín, Paula Martínez-Valero, Carlos B Rueda, Eduardo Calpena, Araceli Del Arco, Francesc Palau, Jorgina Satrústegui
PMID28220846
摘要
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-Ca