Proteins that traffic through the eukaryotic secretory pathway are commonly modified with N-
linked carbohydrates. These bulky amphipathic modifications at asparagines intrinsically …

Background The quality of proteins destined for the secretory pathway is ensured by two
distinct mechanisms in the endoplasmic reticulum (ER): productive folding of newly …

Almost 50 inborn errors of metabolism have been described due to congenital defects in N-
linked glycosylation. These phenotypically diverse disorders typically present as clinical …

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to
impaired protein and lipid glycosylation. We identified two patients with defective serum …

Diagnostic screening of the congenital disorders of glycosylation (CDG) generally involves
isoelectric focusing of plasma transferrin, a robust method easily integrated in medical …

Clinical glycomics comprises a spectrum of different analytical methodologies to analyze
glycan structures, which provides insights into the mechanisms of glycosylation. Within …

This review is the eighth update of the original article published in 1999 on the application of
Matrix‐assisted laser desorption/ionization mass spectrometry (MALDI) mass spectrometry …

The internal environment of the eukaryotic cell is divided by membranes into various
organelles, containing diverse functional subcompartments, which allow complex cellular …

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases
comprising more than 85 known distinct disorders. They show a great phenotypic variability …

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein
and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 …