Fig. 5: Enrichment of interferon-associated immune signatures in ALS hiPSCs and post-mortem spinal cord tissues.

a Schematic representation of the human CNS illustrating the anatomical regions of the spinal cord, including the cervical, thoracic and lumbar regions. b Volcano plots of normalized differentially expressed genes (│Log2FC│≥ 1, FDR < 0.05) in post-mortem ALS patient tissue obtained from cervical (n = 223 samples), and lumbar (n = 198 samples) spinal cord regions. c, d Enrichment pathway analysis of Biological Process (BP) GO terms of up- and down-regulated DEGs of the same tissues. e, f Analysis of significantly DEGs (│Log2FC│≥1, FDR < 0.05) present in post-mortem ALS spinal cord relative to healthy controls via Interferome.org. g–j Comparison of either significantly or non-significantly altered genes (│Log2FC│≥1, FDR < 0.05) of SOD1Mut mice at terminal stage with post-mortem ALS samples relative to WT mice/healthy controls. k Heatmap of indicated genes in post-mortem ALS tissue compared to control samples. l Schematic depicting experimental workflow for transcriptomic datasets from ALS mutant hiPSC-astrocytes. m, n Comparison analysis of significantly altered genes across different ALS mutants of hiPSCs-astrocytes, as well as with murine species.