A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model.

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model.

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 enzym...

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Detalles Bibliográficos
Autores principales: Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Formato: Artículo
Lenguaje:English
Publicado: Public Library of Science (PLoS) 2017-01-01
Colección:PLoS ONE
Acceso en línea:http://europepmc.org/articles/PMC5404867?pdf=render

Internet

http://europepmc.org/articles/PMC5404867?pdf=render

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