Article
Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.
Molecular cell - 20 Feb 2020
Young-Baird Sara K, Lourenço Maíra Bertolessi, Elder Megan K, Klann Eric, Liebau Stefan, Dever Thomas E
Abstract excerpt
Dysregulation of cellular protein synthesis is linked to a variety of diseases. Mutations in EIF2S3, encoding the γ subunit of the heterotrimeric eukaryotic translation initiation factor eIF2, cause MEHMO syndrome, an X-linked intellectual disability disorder. Here, using patient-derived induced pluripotent stem cells, we show that a mutation at the C terminus of eIF2γ impairs CDC123 promotion of eIF2 complex...
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