Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes

How mutations in glial fibrillary acidic protein (GFAP) cause Alexander disease (AxD) remains elusive. We generated iPSCs from two AxD patients and corrected the GFAP mutations to examine the effects of mutant GFAP on human astrocytes. AxD astrocytes displayed GFAP aggregates, recapitulating the pat...

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Detalles Bibliográficos
Autores principales: Jones, Jeffrey R., Kong, Linghai, Hanna, Michael G., Hoffman, Brianna, Krencik, Robert, Bradley, Robert, Hagemann, Tracy, Choi, Jeea, Doers, Matthew, Dubovis, Marina, Sherafat, Mohammad Amin, Bhattacharyya, Anita, Kendziorski, Christina, Audhya, Anjon, Messing, Albee, Zhang, Su-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275075/
https://www.ncbi.nlm.nih.gov/pubmed/30355500
http://dx.doi.org/10.1016/j.celrep.2018.09.083

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