The large spectrum of eIF2B-related diseases.

@article{Fogli2006TheLS,
  title={The large spectrum of eIF2B-related diseases.},
  author={Anne Fogli and Odile Boespflug-Tanguy},
  journal={Biochemical Society transactions},
  year={2006},
  volume={34 Pt 1},
  pages={22-9}
}
eIF2B (eukaryotic initiation factor 2B) is a GEF (guanine nucleotide-exchange factor) that plays, with its substrate eIF2, a key regulatory role in the translation initiation phase of protein synthesis. The importance of correct control of eIF2 and eIF2B for normal physiology is underlined by the recent involvement of the five genes that encode the five eIF2B subunits in a severe autosomal recessive neurodegenerative disease, described in young children as CACH (childhood ataxia with central… CONTINUE READING

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