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. 2023 Sep 7;32(24):3323–3341. doi: 10.1093/hmg/ddad146

Figure 2.

Figure 2

iPSCs and NCCs derived from GM3SD variants fail to produce GM3 and accumulate LacCer. GSLs extracted from WT and GM3SD patient cell types were resolved by TLC and visualized by staining with orcinol reagent. The mobility of three sets of GSL standards are shown for reference (Neut, GSLs with neutral cores of increasing length up to globotetraosylceramide, Gb4; Gg, GSLs with gangliotetraose cores carrying 0 (asialo, aGM1), 1 (GM), 2 (GD), or 3 (GT) sialic acids; Lac, GSLs with a LacCer core carrying 0, 1, or 2 sialic acids). In iPSCs of all three genotypes, the GSL profile is dominated by LacCer and globo-series GSLs. Upon differentiation of WT iPSCs to NCCs, LacCer abundance decreases (asterisk) and the appearance of gangliosides is evident, among which GM3 is the most abundant (arrowhead). NCCs derived from both GM3SD genotypes retain high levels of LacCer and do not generate GM3.