Over 100 human genetic disorders result from mutations in glycosylation-related genes. In
2013, a new glycosylation disorder was reported every 17 days. This trend will probably …

Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with
sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the …

Associations between cells and the basement membrane are critical for a variety of
biological events including cell proliferation, cell migration, cell differentiation and the …

Mannose is a simple sugar with a complex life. It is a welcome therapy for genetic and
acquired human diseases, but it kills honeybees and blinds baby mice. It could cause …

Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a
heterogeneous group of disorders often associated with brain and eye defects in addition to …

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We
conducted a genome-wide association study (GWAS) followed by replication in a combined …

Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum,
impacting nearly every organ system and launching a family-driven diagnostic odyssey …

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …

Malformations of cortical development (MCDs) are an important cause of epilepsy and an
extremely interesting group of disorders from the perspective of brain development and its …

Most proteins are modified by glycans, which can modulate the biological properties and
functions of glycoproteins. The major glycans can be classified into N-glycans and O …