FIGURE

Fig. 3

ID

ZDB-FIG-240904-34

Publication

Zelina et al., 2024 - ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons

Other Figures

All Figure Page

Back to All Figure Page

Fig. 3

ALS-associated C21ORF2 variants cause neuronal apoptosis. A Coronal sections of adult mouse motor cortex and spinal cord were co-immunostained for C21ORF2 and CTIP2 (upper panel) or CHAT (lower panel) to mark upper and lower MNs, respectively. Squares in left panels are shown at higher magnification in the right three panels. B Co-immunostaining for C21ORF2 and tubulin of mouse primary cortical neurons at 5 days in vitro (DIV). C Immunostaining for C21ORF2 and cleaved-Caspase-3 (cCAS3) of DIV5 mouse primary cortical neurons exogenously expressing C21ORF2-V58L. D Quantification of the percentage of cCas3-positive primary cortical neurons in cultures expressing GFP, GFP-tagged wild type C21ORF2 or GFP-tagged C21ORF2 variants. C21ORF2 variants are related to ALS (V58L, R211*, A222, d263), ciliopathies (L224P, C61Y) or both (R73P, V111M). Results from three independent experiments are plotted as means with SEM. **** P < 0.0001 Kruskal–Wallis test, Dunn’s multiple comparison post-hoc test. Scale bars: A, 200 µm (low magnification); 20 µm (high magnification); B, 10 µm; C, 5 µm

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Acta Neuropathol Commun