Skip to main content
. Author manuscript; available in PMC: 2015 Sep 1.
Published in final edited form as: Hum Mutat. 2014 Jul 17;35(9):1101–1113. doi: 10.1002/humu.22602

Figure 5. Expression of torsinA isoforms perturbs the morphology of the ER and NE.

Figure 5

Fibroblast cells infected with lentivirus expressing torsinAwt and torsinA variants. (A) Forty-eight hr post-infection cells were processed for immunocytochemistry for torsinA and PDI. Magnification bar = 10 µM. (B) NE ultrastructure in torsinAwt and torsinA isoforms expressing human fibroblasts cells. Cells expressing torsinAwt (nucleus on the left, cytoplasm on the right; top panel), and torsinA isoforms: NE in torsinAE, torsinAR288Q, torsinAF205I (in order from the top to the bottom). Note, abnormal spacing between inner and out nuclear membrane in cells expressing torsinA variants (scale bar = 100 nm). Higher magnification (scale bar = 500 nm) image shows abnormal spacing in torsinAR288Q (Fig. 5C) and torsinAFF205I (Fig. 5D) cell lines. Note, the herniation of inner nuclear membrane into perinuclear space in cells (Fig. 5C–D).