ELP3 and Fabry disease: In order to place our findings in a human pathological context, we analyzed primary skin fibroblasts from FD patients carrying the splice site IVS20 + 6T_C variant in ELP144 that expressed barely detectable amount of ELP1 proteins and low level of ELP3, resulting from its instability upon nonassembly of the Elongator complex (Supplementary Fig. 4a)25.