The mTOR pathway and its role in human genetic diseases
M Rosner, M Hanneder, N Siegel, A Valli… - … Research/reviews in …, 2008 - Elsevier
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 sclerosis …
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 sclerosis …