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 …

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 We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …

Glycosylphosphatidylinositols (GPIs) act as membrane anchors of many eukaryotic cell
surface proteins. GPIs in various organisms have a common backbone consisting of …

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 …

Cerebral visual impairment (CVI) is a major cause of low vision in children due to
impairment in projection and/or interpretation of the visual input in the brain. Although …

Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

It is estimated that 0.5% of all mammalian proteins have a glycosylphosphatidylinositol (GPI)‐
anchor. GPI‐anchored proteins (GPI‐APs) play key roles, particularly in embryogenesis …

At least 150 different human proteins are anchored to the outer leaflet of the plasma
membrane via glycosylphosphatidylinositol (GPI). GPI preassembled in the endoplasmic …

Background Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors 150 or more
kinds of proteins to the human cell surface. There are at least 26 genes involved in the …