A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

@article{RodrguezEscudero2011ACF,
  title={A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.},
  author={Isabel Rodr{\'i}guez-Escudero and Mar{\'i}a D. Oliver and Amparo Andr{\'e}s-Pons and Mar{\'i}a Molina and V{\'i}ctor J Cid and Rafael Pulido},
  journal={Human molecular genetics},
  year={2011},
  volume={20 21},
  pages={4132-42}
}
The PTEN (phosphatase and tensin homolog) phosphatase is unique in mammals in terms of its tumor suppressor activity, exerted by dephosphorylation of the lipid second messenger PIP(3) (phosphatidylinositol 3,4,5-trisphosphate), which activates the phosphoinositide 3-kinase/Akt/mTOR (mammalian target of rapamycin) oncogenic pathway. Loss-of-function mutations in the PTEN gene are frequent in human cancer and in the germline of patients with PTEN hamartoma tumor-related syndromes (PHTSs). In… CONTINUE READING