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

Raquel López-GálvezMaría Eugenia de la Morena-BarrioAlberto López-LeraMonika PathakAntonia MiñanoMercedes SerranoDelphine BorgelVanessa RoldánVicente VicenteJonas EmsleyJavier Corral

Published in: Orphanet journal of rare diseases (2020)

N-glycosylation at Asn230 is essential for FXII secretion. PMM2-CDG have high levels of FXII lacking N-glycosylation at Asn414, but this glycoform displays similar activation than fully glycosylated, explaining the absence of angioedema in CDG.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
patient reported outcomes
angiotensin ii
patient reported