Inherited glycosylphosphatidylinositol deficiency:a review from molecular and clinical perspectives  

作　　者：Shan Li Qi Tang Yuwu Jiang Xing Chen 

机构地区：[1]Children’s Medical Center,Peking University First Hospital,Beijing 100034,China [2]College of Chemistry and Molecular Engineering,Peking University,Beijing 100871,China [3]Beijing National Laboratory for Molecular Sciences,Peking University,Beijing 100871,China [4]Peking-Tsinghua Center for Life Sciences,Peking University,Beijing 100871,China [5]Synthetic and Functional Biomolecules Center,Peking University,Beijing 100871,China [6]Key Laboratory of Bioorganic Chemistry and Molecular Engineering of Ministry of Education,Peking University,Beijing 100871,China

出　　处：《Acta Biochimica et Biophysica Sinica》2024年第8期1234-1243,共10页生物化学与生物物理学报（英文版）

基　　金：supported by the grants from the National Natural Science Foundation of China(Nos.22321005 and 22037001 to X.C.;Nos.22A20339,81601131,82071263,and 12026606 to Y.J.);the Beijing Natural Science Foundation(No.5244034 to Q.T.);supported by the National Postdoctoral Program for Innovative Talent.X.C.is a recipient of Xplorer Prize.

摘　　要：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 GPI-anchored proteins(GPI-APs)and summarizes clinical IGD cases from a molecular perspective.We also review current diagnostic and therapeutic approaches for IGD.Finally,we discuss future research directions to facilitate the understanding and treatment of GPI-related disorders.

关 键 词：GLYCOSYLATION GLYCOSYLPHOSPHATIDYLINOSITOL inherited GPl deficiency 

分 类 号：Q53[生物学—生物化学]