Fig. 3

Fig. 3

Reduced expression of DNAJC7 protein in the motor cortex of FALS cases with the DNAJC7 variant. a Brain sarkosyl-insoluble fractions from patients with FALS (IV-1, IV-4) and patients with FTLD of various subtypes were subjected to immunoblot analysis using a phosphorylated-TDP43 (Ser409/410) antibody. The immunoblot revealed a distinct pattern of phosphorylated TDP-43, including a prominent band at approximately 50 kDa corresponding to full-length TDP-43, and C-terminal fragments of approximately 23–25 kDa, consistent with the type B pattern previously described [24]. b Representative immunoblot showing DNAJC7 protein levels in motor cortex lysates from two FALS patients (IV-1 and IV-4), two SALS patients, and four controls. β-actin was used as the internal loading control. The asterisk (*) indicates the specific band corresponding to DNAJC7. Notably, DNAJC7 protein was barely detectable in the two FALS cases. c Immunohistochemical staining of brain sections from a patient with FALS (IV-1), a patient with SALS, and a control individual using an anti-DNAJC7 antibody. Scale bar: 50 µm. d Representative images of double -fluorescent staining of SALS brain sections with anti-TDP-43 and anti-DNAJC7 antibodies. Scale bar: 20 µm. SALS, sporadic amyotrophic lateral sclerosis; FALS, familial amyotrophic lateral sclerosis; FTLD, frontotemporal lobar degeneration; TDP-43, TAR DNA-binding protein of 43 kDa