Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease
AbstractThe pathology of Charcot-Marie-Tooth (CMT), a disease arising from mutations in different genes, has been associated with an impairment of mitochondrial dynamics and axonal biology of mitochondria. Mutations in ganglioside-induced differentiation-associated protein 1 (GDAP1) cause several forms of CMT neuropathy, but the pathogenic mechanisms involved remain unclear. GDAP1 is an outer mitochondrial membrane protein highly expressed in neurons. It has been proposed to play a role in different aspects of mitochondrial physiology, including mitochondrial dynamics, oxidative stress processes, and mitochondrial transport along the axons. Disruption of the mitochondrial network in a neuroblastoma model of GDAP1-related CMT has been shown to decrease Ca2+ entry through the store-operated calcium entry (SOCE), which caused a failure in stimulation of mitochondrial respiration. In this review, we summarize the different functions proposed for GDAP1 and focus on the consequences for Ca2+ homeostasis and mitochondrial energy production linked to CMT disease caused by different GDAP1 mutations. View Full-Text
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González-Sánchez, P.; Satrústegui, J.; Palau, F.; del Arco, A. Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease. Int. J. Mol. Sci. 2019, 20, 403.
González-Sánchez P, Satrústegui J, Palau F, del Arco A. Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease. International Journal of Molecular Sciences. 2019; 20(2):403.Chicago/Turabian Style
González-Sánchez, Paloma; Satrústegui, Jorgina; Palau, Francesc; del Arco, Araceli. 2019. "Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease." Int. J. Mol. Sci. 20, no. 2: 403.
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