7684f7727d85047dbd8cacd975cddbcf pmc_30669311.pdf 804e84a6f2213382bba022b3649e9deebb62fda0 pmc_30669311.pdf 8765127bcecd06c490d39809fbd02d30e340514c38696e94b619d9cf6200a9a4 pmc_30669311.pdf Title: Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease Subject: The 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. Keywords: GDAP1; recessive mutations; store operated calcium entry; mitochondrial location; calcium regulated cell respiration Author: Paloma González-Sánchez, Jorgina Satrústegui, Francesc Palau and Araceli del Arco Creator: LaTeX with hyperref package Producer: pdfTeX-1.40.18 CreationDate: Fri Jan 18 10:30:10 2019 CET ModDate: Fri Jan 18 10:30:10 2019 CET Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 17 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 793882 bytes Optimized: no PDF version: 1.5 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- GVKLDR+URWPalladioL-Ital Type 1 Custom yes yes no 64 0 TVQAIJ+URWPalladioL-Bold Type 1 Custom yes yes no 65 0 FYYAHQ+VnURWPalladioL-Bold Type 1 Custom yes yes no 66 0 NVKHAI+URWPalladioL-Roma Type 1 Custom yes yes no 67 0 BAMNYG+VnURWPalladioL Type 1 Custom yes yes no 68 0 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