Article
EIF2B2 mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response.
RNA (New York, N.Y.) - 1 Jun 2018
Moon Stephanie L, Parker Roy
Abstract excerpt
Mutations in eIF2B genes cause vanishing white matter disease (VWMD), a fatal leukodystrophy that can manifest following physical trauma or illness, conditions that activate the integrated stress response (ISR). EIF2B is the guanine exchange factor for eIF2, facilitating ternary complex formation and translation initiation. During the ISR, eIF2α is phosphorylated and inhibits eIF2B, causing global translation...
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