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. Author manuscript; available in PMC: 2019 Jun 1.
Published in final edited form as: Traffic. 2018 Apr 24;19(6):463–480. doi: 10.1111/tra.12564

Figure 12. COG7-CDG patient fibroblasts phenocopy glycosylation-independent defects observed in HEK293T Cog KO cells.

Figure 12

(A) Phase contrast images of COG7-CDG patient fibroblasts reveled that ~30% of cells contain vacuoles (arrows). (B) EM analysis of patient fibroblasts indicates abundant vacuole-like EELS structures throughout the cell, though smaller than those in HEK293T cells (arrows). (C) Immunostaining of COG7-CDG patient fibroblasts and control fibroblasts reveal enlarged Lamp2 positive EELS in patient fibroblasts but not in control. (D and E) COG7-CDG patient fibroblasts and control fibroblasts lysates and concentrated conditioned media were analyzed for Cathepsin D (D), Col6A1, GPP130, and α-tubulin (E). Col6A1 and cathepsin D were secreted 3× more in COG7-CDG patient cells than control (n=2, calculated via densitometry) while transmembrane protein GPP130 was not secreted in either. α-tubulin was used as a control for lysis. Scale bars are 5μm.