Congenital disorders of glycosylation are a genetically and clinically heterogeneous group
of> 130 diseases caused by defects in various steps along glycan modification pathways …

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 …

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies …

Glycosylated α-dystroglycan (α-DG) serves as cellular entry receptor for multiple pathogens,
and defects in its glycosylation cause hereditary Walker-Warburg syndrome (WWS). At least …

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

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 …

Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders
known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in …

In contrast to the current belief that cholesterol reduction with statins decreases
atherosclerosis, we present a perspective that statins may be causative in coronary artery …

Over the past 2 decades, investigators in the field of cardiac genetics have evolved a
complex understanding of the pathophysiological basis of inherited cardiac diseases, which …

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 …