Article
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.
Acta neuropathologica - 1 Feb 2013
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, Kunz Wolfram S
Abstract excerpt
Charcot-Marie-Tooth neuropathy type 2A (CMT2A) is associated with heterozygous mutations in the mitochondrial protein mitofusin 2 (Mfn2) that is intimately involved with the outer mitochondrial membrane fusion machinery. The precise consequences of these mutations on oxidative phosphorylation are still a matter of dispute. Here, we investigate the functional effects of MFN2 mutations in skeletal muscle and...
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