Fig. 2

The nuclear membrane integrity is compromised by mutant PFN1. a Transmission electron microscopy shows the presence of protrusions and folds (arrows) in Neuro2a cells expressing V5- or GFP-tagged PFN1^C71G compared to untransfected (Untr.) or PFN1^WT cells, similar to what observed in the presence of TDP-43 C-terminal fragment (CTF). Arrows point to anomalous membrane structures in the nucleus. Aggregates (asterisks) are visible as dark amorphous structures in the cytoplasm. b Lamin A/C (green) distribution at the NE is altered in a higher percentage of mutant PFN1 MNs. c Overall nuclear levels of Lamin A/C also appear slightly reduced in cells with abnormal staining. Boxes indicate areas enlarged in insets. DAPI (blue) was used to detect the nucleus and assess cell health. Scale bars: 2 µm in (a), 10 µm in (b). Bars are mean ± SEM; *p < 0.05, **p < 0.01. N = 5 independent experiments (b) and 14–47 cells from 5 independent experiments (c). See also Supplementary Fig. 2 and Supplementary Table 1 for details on statistics