Fig. 3: RAI1 haploinsufficiency alters the lipid profile.

A O-PLS-DA LV1-LV2 score plot of untargeted lipidomic analysis revealed distinct lipid profiles between SMS cells (RAI1-del1 and RAI1-S399P40fx, green) and CTRL (CTR1/2 and sibling, red) cells (n = 3 biological replicates). B O-PLS-DA LV1-LV2 weight plot. The 100 most discriminant lipids are colored red (higher in SMS samples) and green (higher in control samples). The compositions of the 50 most representative lipids in the control and SMS samples are shown. C Heatmap of triglycerides. D Box plots showing the relative TG and GM2/GD3 ganglioside abundances in control, SMS and CTR cells. The relative abundance was derived by adding the peak area for each lipid subclass identified by LC–MS and Lipostar software. The boxplots show the medians (horizontal lines), 25th–75th percentiles (box outlines), and highest and lowest values within 1.5x of the interquartile range (vertical lines). Graphs: mean ± SEM, one-way ANOVA + Newman–Keuls post hoc test, *p < 0.05, **p < 0.01, ***p < 0.001.