Fig. 2: UNC13A CE inclusion in human TDP-43 proteinopathies.
From: TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
a, UNC13A CE expression level is increased in the frontal cortices of patients with FTLD-TDP. GAPDH and RPLP0 were used to normalize the RT–qPCR (two-tailed Mann–Whitney test, mean ± 95% confidence interval). The schematic to the right shows the localization of the primer pair (arrows) used for the RT–qPCR assay. Healthy: n = 27; sporadic FTLD-TDP: n = 34; C9ORF72+ FTLD-TDP: n = 47; GRN+ FTLD-TDP: n = 9. b, UNC13A CE is detected in nearly 50% of frontal cortical tissues and temporal cortical tissues from neuropathologically confirmed FTLD-TDP patients in bulk RNA-sequencing from the NYGC ALS Consortium cohort. CE is absent in tissues from healthy controls and patients with FTLD-FUS, FTLD-TAU or ALS-SOD1.
