Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis
Luisa Sturiale, Marie‐Cécile Nassogne, Angelo Palmigiano, Angela Messina, Immacolata Speciale, Rosangela Artuso, Gaetano Bertino, Nicole Revençu, Xavier Stéphenne, Cristina De Castro, Gert Matthijs, Rita Barone, Jaak Jaeken, Domenico Garozzo
Abstract
variant. Serum transferrin isoelectric focusing showed a surprising N-glycosylation pattern consisting on hyposialylation, as well as remarkable hypersialylation. Mass spectrometry-based glycomic analyses of individual serum glycoproteins enabled to unveil hypersialylated complex N-glycans comprising up to two sialic acids per antenna. Further advanced MS analysis showed the additional sialic acid is bonded through an α2-6 linkage to the peripheral N-acetylglucosamine residue.
Topics & Concepts
Computational biologyMutationChemistryGeneticsBiologyBiochemistryGeneGlycosylation and Glycoproteins ResearchProteoglycans and glycosaminoglycans researchPeptidase Inhibition and Analysis