Role of eukaryotic initiation factor eIF2B in vanishing white matter disease

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

doi:https://doi.org/10.1093/oxfordhb/9780190686307.013.7

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 proceeding › Chapter › Academic › peer-review

2 Citations (Scopus)

Abstract

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 language	English
Title of host publication	The Oxford Handbook of Neuronal Protein Synthesis
Publisher	Oxford University Press
Pages	595
Number of pages	1
ISBN (Electronic)	9780190686307
DOIs	https://doi.org/10.1093/oxfordhb/9780190686307.013.7
Publication status	Published - 1 Jan 2018

Keywords

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

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abstract = "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.",

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Role of eukaryotic initiation factor eIF2B in vanishing white matter disease

Abstract

Keywords

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