[Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease]

Brain Nerve. 2017 Jan;69(1):45-50. doi: 10.11477/mf.1416200635.
[Article in Japanese]

Abstract

CACH/VWM (childhood ataxia with central nervous system hypomyelination/vanishing white matter) disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B (eIF2B), but its etiology is poorly understood. Here, we attempt to provide an explanation for the pathogenic mechanism of this disease, based on the crystal structure of eIF2B.

Publication types

  • Review

MeSH terms

  • Eukaryotic Initiation Factor-2B / chemistry*
  • Eukaryotic Initiation Factor-2B / genetics
  • Eukaryotic Initiation Factor-2B / metabolism
  • Humans
  • Leukoencephalopathies* / genetics
  • Leukoencephalopathies* / metabolism
  • Models, Molecular
  • Mutation
  • Protein Structure, Quaternary
  • White Matter / chemistry*

Substances

  • Eukaryotic Initiation Factor-2B