Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.

Abstract excerpt

Vanishing white matter disease (VWM) is the first human hereditary disease known to be caused by defects in initiation of protein synthesis. Gene defects in each of the five subunits of eukaryotic translation initiation factor 2B (eIF2B α-ɛ) are responsible for the disease, although the mechanism of the pathogenesis is not well understood. In our previous study, four novel eIF2Bɛ mutations were found in Chinese...

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