Fig. 5.

Pathological study of NOTCH2NLC GGC repeat expansion. a immunofluorescence and RNA FISH experiment showing nuclear inclusions with GGC RNA foci. Representative images of p62 (green), ubiquitin (red), fluorescent probe of (GGC)₈ (magenta) and DAPI (blue) in LCLs derived from F3 (left) and F4 (right) families. b Immunofluorescence experiment showing co-localization of G4 foci and intranuclear inclusions. Representative images of p62 (green), BG4 (red) and DAPI (blue) in LCLs of the F3-patient and the F4-patient. All scale bars: 5 μm. c RT-qPCR experiment for NOTCH2NLC expression. mRNA levels of NOTCH2NLC were significantly decreased in LCLs from each father compared with the corresponding mother and the corresponding patient (n = 4 per group). Error bars represent SEM. *p < 0.05, **p < 0.01