Fig. 7
Fig. 7
RNA-seq analysis revealed mitochondrial pathway changes and fat-soluble vitamin deficiency. (A) Significant genes with padj<0.05 and log2FC > 0.58 or log2FC < −0.58 are highlighted in yellow or blue, respectively. Genes not significantly expressed are represented by grey points. (B) The top enriched Biological Processes GO categories have then been plotted. Loss of sacsin during early development leads to an impairment in fat-soluble vitamin related protein (e.g TTPA) and other proteins involved in mitochondrial function and metabolism. Relative mRNA expression of DEGs genes were evaluated in