Article
Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
eLife - 10 Dec 2020
Keefe Matthew D, Soderholm Haille E, Shih Hung-Yu, Stevenson Tamara J, Glaittli Kathryn A, Bowles D Miranda, Scholl Erika, Colby Samuel, Merchant Samer, Hsu Edward W, Bonkowsky Joshua L
Abstract excerpt
Vanishing white matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by mutations in subunits of the eukaryotic initiation factor 2B complex (eIF2B). Current models only partially recapitulate key disease features, and pathophysiology is poorly understood. Through development and validation of zebrafish (Danio rerio) models of VWM, we demonstrate that zebrafish eif2b mutants...
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