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 phosphorylation status of the α subunit of eIF2 (eIF2α); phosphorylated eIF2α attenuates protein translation. Here, we report a consanguineous… CONTINUE READING