Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

摘要

N-glycan sequons identified in FXII and FXII variants generated in the recombinant model. N-glycosylation positions are located in positions 230 (heavy chain) and 414 (light chain). The cleavage site of the heavy chain generated by activation of FXII is shown. As a control, the mutation involved in FXII-HAE p.Thr309Lys, also located in the heavy chain, was also generated