At least 150 human proteins are glycosylphosphatidylinositol-anchored proteins (GPI-APs).
The protein moiety of GPI-APs lacking transmembrane domains is anchored to the plasma …

Simple and complex carbohydrates (glycans) have long been known to play major
metabolic, structural and physical roles in biological systems. Targeted microbial binding to …

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

Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …

Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing
when their protein product would disrupt normal cellular function. This silencing is largely …

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 …

In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex,
as many metabolic and electro-physiological processes have been implicated in disease …

This review presents principles of glycosylation, describes the relevant glycosylation
pathways and their related disorders, and highlights some of the neurological aspects and …

Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of
mental retardation with distinct facial features and elevated serum alkaline phosphatase. We …

Glycosylphosphatidylinositol (GPI) anchoring of cell surface proteins is the most complex
and metabolically expensive of the lipid posttranslational modifications described to date …