Fig. 6
From: Sacs R272C missense homozygous mice develop an ataxia phenotype
SacsR272C exhibit NFH bundles in Purkinje cell soma and dendrites. (a–c) Immunolabelings using pan-NFH antibody (pseudo-coloured in magenta) show intense NFH labeling of Purkinje cell soma and dendrites in SacsR272C mice (c) compared to control (a) and heterozygous (b) animals. Sections are counterstained with Hoechst, pseudo-coloured in cyan blue). (d) Immunoblots of cytoskeletal fractions extracted from cerebella of SacsWT, heterozygous and R272C mice show increased levels of npNFH (asterisk) in SacsR272C homogenates when probed with pan-NFH antibody. (e-g) NFH bundling in SacsR272C is less severe than that observed in Sacs−/− Purkinje cells. Immunolabeling for NFH reveals intense accumulation of NFH protein in Sacs−/− Purkinje cell soma (g, arrows) compared to SacsR272C (f). No such accumulation is seen in control animals (e). (h-j) Vimentin filament bundling in ARSACS fibroblasts. Vimentin immunolabeling demonstrate intense perinuclear ball-like filament bundles in SACSem1KO fibroblast (arrowheads, I). Vimentin filament perinuclear bundles are also observed to a lesser extent in SACSdel/R272C fibroblasts (arrows, J). Control fibroblasts demonstrate a nicely organized vimentin filament network (H). (Scale bar in C and G = 100 μm, scale bar in J = 25 μm)