Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion - Vielhaber, Stefan; Debska-Vielhaber, Grazyna; Peeva, Viktoriya; Schoeler, Susanne; Kudin, Alexei P.; Minin, Irina; Schreiber, Stefanie; Dengler, Reinhard; Kollewe, Katja; Zuschratter, Werner; Kornblum, Cornelia; Zsurka, Gábor; et al. (Acta neuropathologica, 2013)
Keywords: Adult; Analysis; Biopsy; Blotting, Western; Breakpoints; Cell Separation; Cells, Cultured; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - genetics; Citrate (si)-Synthase - metabolism; Clonal deletion; copy number; Cytochrome; Cytochrome c; Cytochrome oxidase; Cytochrome-c oxidase; Disease control; DNA Repair; DNA, Mitochondrial - physiology; Electron transport; Electron Transport - genetics; Electron Transport - physiology; Electron Transport Complex IV - metabolism; Female; Fibroblasts; Fibroblasts - physiology; Gene Dosage; Genetic aspects; GTP Phosphohydrolases - genetics; Humans; Hypotheses; Male; Medicine; Medicine & Public Health; Membrane fusion; Microscopy, Electron; Mitochondria; Mitochondria - genetics; Mitochondria - physiology; Mitochondrial DNA; Mitochondrial Proteins - genetics; Muscle Fibers, Skeletal - physiology; Muscle, Skeletal - physiology; Muscles; Musculoskeletal system; Mutation; Mutation - genetics; Neurology; Neuropathy; Neurosciences; Original Paper; Oxidative phosphorylation; Oxygen consumption; Oxygen Consumption - physiology; Pathology; Patients; Phosphorylation; Replication; Respiration; Skeletal muscle; Succinate Dehydrogenase - metabolism; Young Adult; Germany; Deletion; Mitofusin 2; Mitochondrial DNA; Charcot–Marie–Tooth neuropathy type 2A; Depletion