Fig. 2

Plasma FXII in a representative PMM2-CDG patient and a healthy subject detected by Western Blot. a Basal samples. The aberrant hypoglycosylated form of FXII detected in PMM2-CDG patients (78 kDa) is pointed by a dashed arrow. b Identification of increased levels of hypoglycosylated forms of other hepatic proteins (AT: antithrombin; alpha1-AT: α1-antitrypsin; FXI: factor XI; Tf: transferrin) detected by Western Blot, Q-TOF, or HPLC in plasma of the same PMM2-CDG patient. c Effect of treatment of plasma with N-glycosidase F (PNGase-F). The FXII forms with 2, 1 and 0 N-glycans (the latter observed after treatment with the enzyme) are marked with arrows