Article
The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.
The Journal of biological chemistry - 29 May 2015
Antonenkov Vasily D, Isomursu Antti, Mennerich Daniela, Vapola Miia H, Weiher Hans, Kietzmann Thomas, Hiltunen J Kalervo
Abstract excerpt
The human MPV17-related mitochondrial DNA depletion syndrome is an inherited autosomal recessive disease caused by mutations in the inner mitochondrial membrane protein MPV17. Although more than 30 MPV17 gene mutations were shown to be associated with mitochondrial DNA depletion syndrome, the function of MPV17 is still unknown. Mice deficient in Mpv17 show signs of premature aging. In the present study, we used...
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