PMID- 15624019
OWN - NLM
STAT- MEDLINE
DCOM- 20050207
LR  - 20221214
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 37
IP  - 1
DP  - 2005 Jan
TI  - Dysregulation of the TSC-mTOR pathway in human disease.
PG  - 19-24
AB  - The mammalian target of rapamycin (mTOR) has a central role in the regulation of 
      cell growth. mTOR receives input from multiple signaling pathways, including 
      growth factors and nutrients, to stimulate protein synthesis by phosphorylating 
      key translation regulators such as ribosomal S6 kinase and eukaryote initiation 
      factor 4E binding protein 1. High levels of dysregulated mTOR activity are 
      associated with several hamartoma syndromes, including tuberous sclerosis 
      complex, the PTEN-related hamartoma syndromes and Peutz-Jeghers syndrome. These 
      disorders are all caused by mutations in tumor-suppressor genes that negatively 
      regulate mTOR. Here we discuss the emerging evidence for a functional 
      relationship between the mTOR signaling pathway and several genetic diseases, and 
      we present evidence supporting a model in which dysregulation of mTOR may be a 
      common molecular basis, not only for hamartoma syndromes, but also for other 
      cellular hypertrophic disorders.
FAU - Inoki, Ken
AU  - Inoki K
AD  - Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109, USA.
FAU - Corradetti, Michael N
AU  - Corradetti MN
FAU - Guan, Kun-Liang
AU  - Guan KL
LA  - eng
GR  - R01 DK124709/DK/NIDDK NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
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  - Autophagy/physiology
MH  - Cardiomegaly/enzymology/genetics/metabolism
MH  - Hamartoma/enzymology/genetics/metabolism
MH  - Humans
MH  - Protein Kinases/genetics/*metabolism
MH  - TOR Serine-Threonine Kinases
MH  - Tuberous Sclerosis/enzymology/genetics/*metabolism
RF  - 100
EDAT- 2004/12/30 09:00
MHDA- 2005/02/08 09:00
CRDT- 2004/12/30 09:00
PHST- 2004/07/27 00:00 [received]
PHST- 2004/11/23 00:00 [accepted]
PHST- 2004/12/30 09:00 [pubmed]
PHST- 2005/02/08 09:00 [medline]
PHST- 2004/12/30 09:00 [entrez]
AID - ng1494 [pii]
AID - 10.1038/ng1494 [doi]
PST - ppublish
SO  - Nat Genet. 2005 Jan;37(1):19-24. doi: 10.1038/ng1494.