Fig.4

Detection of the NCDN de novo variant (c.1206G > A; p.(Trp402*)) in the FTLD-FET patient. a Confirmation of the variant in NCDN by Sanger sequencing (left panels) and SNaPshot (right panels) in blood and in different brain regions. In SNaPshot panels, blue represents the WT allele (G) and green the mutated allele (A). b Western blot analysis of NCDN and β-Actin from control (CTL-1, -2) or FTLD-FET affected patient (AH-11–02) frontal cortical tissues. Arrowhead indicates full-length NCDN and the star shows the absence of truncated NCDN at the expected size of 43KDa. c Quantification of NCDN expression shows a ~ 31% decrease in NCDN protein level from n = 4 experimental replicates per group. Error bars represent the mean ± SEM