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...

Descripción completa

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

Internet

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

Ejemplares similares