Microcephalin: a causal link between impaired damage response signalling and microcephaly.

@article{ODriscoll2006MicrocephalinAC,
  title={Microcephalin: a causal link between impaired damage response signalling and microcephaly.},
  author={Mark O'Driscoll and Andrew P. Jackson and Penny A Jeggo},
  journal={Cell cycle},
  year={2006},
  volume={5 20},
  pages={2339-44}
}
Seckel Syndrome (SS) and Primary Microcephaly (MCPH) are disorders exhibiting marked microcephaly with a head circumference less than three standard deviations below the mean. ATR-Seckel Syndrome is conferred by mutations in ataxia and telangiectasia and Rad3 related (ATR), a kinase that activates a DNA damage signalling response. Cell lines from additional SS patients, who are normal for ATR, show defective ATR signalling, suggesting that they carry mutations in other components of the ATR… CONTINUE READING