Insights Into the Pathological Glycosylation Associated With COG6-CDG.

ABSTRACT:

Background and aims

Congenital disorders of glycosylation (CDG) are rare diseases caused by defects in protein glycosylation. We present an infant with multisystemic clinical involvement, diagnosed with COG6-CDG.

Methods

Serum and transferrin-linked N-glycans, as well as serum and apolipoprotein CIII-linked O-glycans, were analyzed by MALDI mass spectrometry. Mutation analysis was performed by next-generation sequencing. Functional studies assessed COG6 subunit expression, cooperating subunits, and retrograde transport. GlycoWorks RapiFluor-MS-based N-glycan labeling with HPLC-FLD and ESI-Orbitrap mass spectrometry enabled further comprehensive glycoprofile analysis.

Results

Aberrant glycosylation typical of combined N- and O-glycosylation defects was detected. Mutati

SUBMITTER: Pakanova Z 

PROVIDER: S-EPMC12682456 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature