Article
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model.
PloS one - 1 Jan 2017
Yuan Xuan, Li Zhe, Baines Andrea C, Gavriilaki Eleni, Ye Zhaohui, Wen Zhexing, Braunstein Evan M, Biesecker Leslie G, Cheng Linzhao, Dong Xinzhong, Brodsky Robert A
Abstract excerpt
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic...
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