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Title

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease

AuthorsGonzález-Sánchez, Paloma CSIC; Satrústegui, Jorgina CSIC ORCID; Palau, Francesc; Arco, Araceli del
KeywordsGDAP1
Recessive mutations
Store operated calcium entry
Mitochondrial location
Calcium regulated cell respiration
Issue Date18-Jan-2019
PublisherMolecular Diversity Preservation International
CitationInternational Journal of Molecular Sciences 20 (2019)
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.
Publisher version (URL)http://dx.doi.org/10.3390/ijms20020403
URIhttp://hdl.handle.net/10261/214038
DOI10.3390/ijms20020403
Identifiersdoi: 10.3390/ijms20020403
issn: 1422-0067
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