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. 2016 Mar 17;98(4):615–626. doi: 10.1016/j.ajhg.2016.02.007

Figure 4.

Figure 4

Functional Assays

(A) Analysis of mannolipids accumulated in LCLs from the affected individuals. Lanes are as follows: 1, LCLs from a normal individual; 2, LCLs from the father of individuals EG01 and EG02 (IV:3); 3, LCLs (transfected with PIGG cDNA) from individual EG01; 4, LCLs (transfected with an empty vector) from individual EG01; 5, LCLs (transfected with PIGG cDNA) from individual EG02; 6, LCLs (transfected with an empty vector) from individual EG02; 7, K562 PIGK-deficient cells; 8, LCLs (transfected with PIGG cDNA) from individual JP01; and 9, LCLs (transfected with an empty vector) from individual JP01. White arrowheads represent H8, a complete GPI intermediate, and black arrowheads represent H7, a GPI intermediate without ethanolaminephosphate at the second mannose. Asterisks indicate H7′ (∗) and H8′ (∗∗), H7 and H8, respectively, with the fourth mannose.47

(B) Amounts of each mutant PIGG. (Upper panel) Western blot of GAPDH for loading controls. (Lower panel) Western blot of wild-type (∗) or mutant (∗∗) HA-tagged PIGG.