The mTOR pathway and its role in human genetic diseases.

  title={The mTOR pathway and its role in human genetic diseases.},
  author={Margit Rosner and Michaela Hanneder and Nicol Siegel and Alessandro Valli and Christiane Fuchs and Markus Hengstschlaeger},
  journal={Mutation research},
  volume={659 3},
The signalling components upstream and downstream of the protein kinase mammalian target of rapamycin (mTOR) are frequently altered in a wide variety of human diseases. Upstream of mTOR key signalling molecules are the small GTPase Ras, the lipid kinase PI3K, the Akt kinase, and the GTPase Rheb, which are known to be deregulated in many human cancers. Mutations in the mTOR pathway component genes TSC1, TSC2, LKB1, PTEN, VHL, NF1 and PKD1 trigger the development of the syndromes tuberous… CONTINUE READING


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