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: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404867/
https://www.ncbi.nlm.nih.gov/pubmed/28441409
http://dx.doi.org/10.1371/journal.pone.0174074

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