FIGURE 9.

TorsinA E171Q mutation and dystonia-associated mutations promote translocation of torsinA from the ER to NE. A, SH-SY5Y cells expressing C-terminal HA-tagged torsinA WT, torsinA ΔE, torsinA Δ323–328, torsinA K108A, or torsinA E171Q were stained with primary antibodies against HA and ER marker KDEL, followed by detection with secondary antibodies conjugated to Texas Red (KDEL, red) or FITC (torsinA, green). Hoechst stain was used to visualize the nucleus. Scale bars, 10 μm. B, quantification shows the relative distribution of torsinA and KDEL in the NE versus the ER. Data represent mean ± S.E. (error bars) from at least three independent experiments. *, significantly different from the NE/ER ratio of torsinA WT (p < 0.05). C, NE preference of torsinA was determined by normalizing the NE/ER ratio of torsinA to the corresponding NE/ER ratio of KDEL in the same cells. Data represent mean ± S.E. from at least three independent experiments. *, significantly different from torsinA WT (p < 0.05).