Role of eukaryotic initiation factor eIF2B in vanishing white matter disease

Truus E.M. Abbink, Lisanne E. Wisse, Xuemin Wang, Christopher G. Proud

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

2 Citations (Scopus)


Vanishing white matter (VWM) disease is a recessive disorder characterized by gradual loss of white matter and of myelin. Its clinical severity is high variable. VWM is caused by mutations in any one of the five genes encoding subunits of eukaryotic initiation factor 2B (eIF2B), a ubiquitous, multimeric protein that plays crucial roles in protein synthesis and its control. There are now known to be at least 160 mutations in eIF2B genes that lead to VWM. Where tested, most mutations impair the activity or integrity of the eIF2B complex. However, it remains unclear how and why defects in eIF2B lead to VWM. This article discusses recent advances in understanding the structure and functions of eIF2B and the pathogenic basis of VWM.

Original languageEnglish
Title of host publicationThe Oxford Handbook of Neuronal Protein Synthesis
PublisherOxford University Press
Number of pages1
ISBN (Electronic)9780190686307
Publication statusPublished - 1 Jan 2018


  • Integrated stress response
  • Mouse model
  • Protein synthesis
  • Ternary complex formation
  • Three-dimensional structure model
  • Translation initiation
  • Vanishing white matter
  • eIF2B

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