Asparagine-linked glycosylation (ALG) is one of the most common protein modification
reactions in eukaryotic cells, as many proteins that are translocated across or integrated into …

▪ Abstract The four essential building blocks of cells are proteins, nucleic acids, lipids, and
glycans. Also referred to as carbohydrates, glycans are composed of saccharides that are …

Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient
glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the …

Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting
from defects in the synthesis of glycans and in the attachment of glycans to other …

Roifman Syndrome is a rare congenital disorder characterized by growth retardation,
cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

Defects in the biosynthesis of the oligosaccharide precursor for N‐glycosylation lead to
decreased occupancy of glycosylation sites and thereby to diseases known as congenital …

Gene transfer vectors based on retroviruses including oncogenic retroviruses and
lentiviruses provide effective means for the delivery, integration and expression of …

Background Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that
often co-occurs with non-hernia-related anomalies (CDH+). While copy number variant …

N-linked glycosylation is one of the most important post-translational modifications of
proteins. Current knowledge of multicellular eukaryote N-glycan biosynthesis suggests high …