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 Whole-exome sequencing (WES) has led to an exponential increase in
identification of causative variants in mitochondrial disorders (MD). Methods We performed …

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 …

Recently developed methods to predict three-dimensional protein structure with high
accuracy have opened new avenues for genome and proteome research. We explore a new …

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare
multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol …

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 …

Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological
processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are …