Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives
Shan Li,
Qi Tang,
Yuwu Jiang
et al.
Abstract:Glycosylphosphatidylinositol (GPI) is a highly conserved post-translational modification in eukaryotes, which is essential for anchoring various proteins to the cell surface. Dysfunction of GPI biogenesis leads to human diseases, such as inherited GPI deficiency (IGD) caused by germline mutations in GPI-related genes. With accumulating reports on individuals with IGD, there has been increasing interest and studies on disease mechanism, diagnosis, and therapy. This review outlines the biosynthetic pathway of GP… Show more
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