PMID- 18598780
OWN - NLM
STAT- MEDLINE
DCOM- 20081014
LR  - 20211203
IS  - 0027-5107 (Print)
IS  - 0027-5107 (Linking)
VI  - 659
IP  - 3
DP  - 2008 Sep-Oct
TI  - The mTOR pathway and its role in human genetic diseases.
PG  - 284-92
LID - 10.1016/j.mrrev.2008.06.001 [doi]
AB  - 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, Peutz-Jeghers syndrome, Cowden syndrome, 
      Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos disease, Proteus syndrome, 
      von Hippel-Lindau disease, Neurofibromatosis type 1, and Polycystic kidney 
      disease, respectively. In addition, the tuberous sclerosis proteins have been 
      implicated in the development of several sporadic tumors and in the control of 
      the cyclin-dependent kinase inhibitor p27, known to be of relevance for several 
      cancers. Recently, it has been recognized that mTOR is regulated by TNF-alpha and 
      Wnt, both of which have been shown to play critical roles in the development of 
      many human neoplasias. In addition to all these human diseases, the role of mTOR 
      in Alzheimer's disease, cardiac hypertrophy, obesity and type 2 diabetes is 
      discussed.
FAU - Rosner, Margit
AU  - Rosner M
AD  - Medical Genetics, Obstetrics and Gynecology, Medical University of Vienna, 
      Wahringer Gurtel 18-20, 1090 Vienna, Austria.
FAU - Hanneder, Michaela
AU  - Hanneder M
FAU - Siegel, Nicol
AU  - Siegel N
FAU - Valli, Alessandro
AU  - Valli A
FAU - Fuchs, Christiane
AU  - Fuchs C
FAU - Hengstschlager, Markus
AU  - Hengstschlager M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20080611
PL  - Netherlands
TA  - Mutat Res
JT  - Mutation research
JID - 0400763
RN  - EC 2.7.- (Protein Kinases)
RN  - EC 2.7.1.1 (MTOR protein, human)
RN  - EC 2.7.11.1 (TOR Serine-Threonine Kinases)
SB  - IM
MH  - Alzheimer Disease/metabolism
MH  - Diabetes Mellitus, Type 2/genetics
MH  - Gene Expression Regulation, Neoplastic
MH  - Genetic Diseases, Inborn/*genetics
MH  - Humans
MH  - Neoplasms/*metabolism
MH  - Protein Kinases/*metabolism/physiology
MH  - *Signal Transduction
MH  - TOR Serine-Threonine Kinases
RF  - 115
EDAT- 2008/07/05 09:00
MHDA- 2008/10/15 09:00
CRDT- 2008/07/05 09:00
PHST- 2008/05/15 00:00 [received]
PHST- 2008/05/29 00:00 [revised]
PHST- 2008/06/03 00:00 [accepted]
PHST- 2008/07/05 09:00 [pubmed]
PHST- 2008/10/15 09:00 [medline]
PHST- 2008/07/05 09:00 [entrez]
AID - S1383-5742(08)00080-X [pii]
AID - 10.1016/j.mrrev.2008.06.001 [doi]
PST - ppublish
SO  - Mutat Res. 2008 Sep-Oct;659(3):284-92. doi: 10.1016/j.mrrev.2008.06.001. Epub 
      2008 Jun 11.