Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.

So-Hyun LeeTai-Seung NamKun-Hee KimJin Hee KimWoong YoonSuk-Hee HeoMin Jung KimBoo Ahn ShinMing-Der PerngHyon E ChoyJihoon JoMyeong-Kyu KimSeok-Yong Choi

Published in: BMC neurology (2017)

The p.Asp128Asn GFAP mutation is likely to be a disease-causing mutation. Although it needs to be tested more extensively in larger case series, the zebrafish assay system presented here would help clinicians determine whether GFAP mutations identified in putative AxD patients are disease-causing.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
multidrug resistant
palliative care
high throughput
peritoneal dialysis
patient reported outcomes