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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 sacs-/- larvae at 120 hpf normalized to β-actin. Three independent RNA samples from sacs-/- mutant larvae at 120 hpf and from controls. *p < 0.05 or **p < 0.01 were calculated by two-tailed Student's t-test. Error bars indicate mean ± s.e.m. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)
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