Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

@inproceedings{Kernohan2015HomozygousMI,
  title={Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability},
  author={Kristin D. Kernohan and Martine T{\'e}treault and Urszula Liwak-Muir and Michael T. Geraghty and Wen Qin and Sunita Venkateswaran and Jorge Reyes Davila and Martin Holc{\'i}k and Jacek Majewski and Julie Richer and Kym M. Boycott},
  booktitle={Human molecular genetics},
  year={2015}
}
Protein translation is an essential cellular process initiated by the association of a methionyl-tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex. This process is regulated by the… CONTINUE READING