Article
DYT1 knock-in mice are not sensitized against mitochondrial complex-II inhibition.
PloS one - 1 Jan 2012
Bode Nicole, Massey Cory, Gonzalez-Alegre Pedro
Abstract excerpt
DYT1 is caused by a partly penetrant dominant mutation in TOR1A that leads to a glutamic acid deletion (ΔE) in torsinA. Identifying environmental factors that modulate disease pathogenesis and penetrance could help design therapeutic strategies for dystonia. Several cell-based studies suggest that expression of torsinA(ΔE) increases the susceptibility of neuronal cells to challenges to their oxidative/energy...
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