Article
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
BMC neurology - 7 Sept 2017
Lee So-Hyun, Nam Tai-Seung, Kim Kun-Hee, Kim Jin Hee, Yoon Woong, Heo Suk-Hee, Kim Min Jung, Shin Boo Ahn, Perng Ming-Der, Choy Hyon E, Jo Jihoon, Kim Myeong-Kyu, Choi Seok-Yong
Abstract excerpt
BACKGROUND: Alexander disease (AxD) is an astrogliopathy that predominantly affects the white matter of the central nervous system (CNS), and is caused by a mutation in the gene encoding the glial fibrillary acidic protein (GFAP), an intermediate filament primarily expressed in astrocytes and ependymal cells. The main pathologic feature of AxD is the presence of Rosenthal fibers (RFs), homogeneous eosinophilic...
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