Article

eIF2B Activator Rescues Neonatal Lethality of an eIF2Bα Sugar Phosphate Binding Mutation Associated with Vanishing White Matter Disease

2023-05-08

Abstract excerpt

eIF2B is a decameric guanine nucleotide exchange factor (GEF) that is essential for protein synthesis and a key effector of the integrated stress response (ISR). Hypomorphic mutations in any of the eIF2B subunits are associated with Vanishing White Matter Disease (VWM), a leukodystrophy characterized by ISR activation and white matter loss. Here, we showed that the VWM-associated N208Y eIF2Bα mutation, which aboli...

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Identifiers and source

Literature Corpus work: c8553656-1085-5d1d-a69c-e4983474796a
DOI: 10.1101/2023.05.06.539602

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