PMID- 21949518
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20111110
LR  - 20211020
IS  - 2092-7258 (Electronic)
IS  - 1738-1061 (Print)
IS  - 1738-1061 (Linking)
VI  - 54
IP  - 6
DP  - 2011 Jun
TI  - Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis.
PG  - 241-5
LID - 10.3345/kjp.2011.54.6.241 [doi]
AB  - Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that results 
      from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in 
      several organs, including subependymal giant cell tumors. The neurological 
      manifestations of TSC are particularly challenging and include infantile spasms, 
      intractable epilepsy, cognitive disabilities, and autism. The TSC1- and 
      TSC2-encoded proteins modulate cell function via the mammalian target of 
      rapamycin (mTOR) signaling cascade, and are key factors in the regulation of cell 
      growth and proliferation. The mTOR pathway provides an intersection for an 
      intricate network of protein cascades that respond to cellular nutrition, energy 
      levels, and growth factor stimulation. In the brain, TSC1 and TSC2 have been 
      implicated in cell body size, dendritic arborization, axonal outgrowth and 
      targeting, neuronal migration, cortical lamination, and spine formation. The mTOR 
      pathway represents a logical candidate for drug targeting, because mTOR regulates 
      multiple cellular functions that may contribute to epileptogenesis, including 
      protein synthesis, cell growth and proliferation, and synaptic plasticity. 
      Antagonism of the mTOR pathway with rapamycin and related compounds may provide 
      new therapeutic options for TSC patients.
FAU - Kim, Won Seop
AU  - Kim WS
AD  - Department of Pediatrics, Chungbuk National University, College of Medicine, 
      Cheongju, Korea.
LA  - eng
PT  - Journal Article
PT  - Retracted Publication
DEP - 20110630
PL  - Korea (South)
TA  - Korean J Pediatr
JT  - Korean journal of pediatrics
JID - 101215374
RIN - Rha YH. Korean J Pediatr. 2013 Jun;56(6):269. PMID: 23807895
PMC - PMC3174359
OTO - NOTNLM
OT  - Tuberous sclerosis complex
OT  - mTOR inhibitor
EDAT- 2011/09/29 06:00
MHDA- 2011/09/29 06:01
PMCR- 2011/06/01
CRDT- 2011/09/28 06:00
PHST- 2011/04/19 00:00 [received]
PHST- 2011/05/11 00:00 [accepted]
PHST- 2011/09/28 06:00 [entrez]
PHST- 2011/09/29 06:00 [pubmed]
PHST- 2011/09/29 06:01 [medline]
PHST- 2011/06/01 00:00 [pmc-release]
AID - 10.3345/kjp.2011.54.6.241 [doi]
PST - ppublish
SO  - Korean J Pediatr. 2011 Jun;54(6):241-5. doi: 10.3345/kjp.2011.54.6.241. Epub 2011 
      Jun 30.