PMID- 23730262
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130605
LR  - 20240412
IS  - 1570-159X (Print)
IS  - 1875-6190 (Electronic)
IS  - 1570-159X (Linking)
VI  - 10
IP  - 4
DP  - 2012 Dec
TI  - mTOR Inhibitors in Tuberous Sclerosis Complex.
PG  - 404-15
LID - 10.2174/157015912804143595 [doi]
AB  - Tuberous sclerosis complex (TSC) is a genetic multiple organ system disorder that 
      is characterized by the development of tumor-like lesions (hamartomas) and 
      neurodevelopmental disorders. Mutations in the TSC1 and TSC2 tumor suppressor 
      genes occur in the majority of patients with TSC, resulting in hyperactivation of 
      the mammalian target of rapamycin (mTOR) signaling pathway and subsequent 
      abnormalities in numerous cell processes. As a result, mTOR inhibitors such as 
      sirolimus and everolimus have the potential to provide targeted therapy for 
      patients with TSC. Everolimus is the first mTOR inhibitor approved as a treatment 
      option in the USA and in Europe for patients with subependymal giant-cell 
      astrocytomas (SEGAs) associated with TSC. The clinical evidence to date supports 
      the use of mTOR inhibitors in a variety of TSC-associated disease manifestations, 
      including SEGAs, renal angiomyolipoma, skin manifestations, and epilepsy. 
      Furthermore, ongoing clinical trials evaluating mTOR inhibitors in TSC are 
      underway, and the results of these studies are expected to provide further 
      evidence that will firmly establish their role in this setting. This article will 
      discuss the role of the mTOR pathway in TSC and review the pharmacokinetics, 
      pharmacodynamics, clinical efficacy, and tolerability of mTOR inhibitors, along 
      with their current place in clinical practice.
FAU - Curatolo, Paolo
AU  - Curatolo P
AD  - Pediatric Neurology Unit, Neuroscience Department, Tor Vergata University 
      Hospital, Rome, Italy.
FAU - Moavero, Romina
AU  - Moavero R
LA  - eng
PT  - Journal Article
PL  - United Arab Emirates
TA  - Curr Neuropharmacol
JT  - Current neuropharmacology
JID - 101157239
PMC - PMC3520048
OTO - NOTNLM
OT  - Angiomyolipoma
OT  - epilepsy.
OT  - everolimus
OT  - mTOR inhibition
OT  - subependymal giant cell astrocytoma
OT  - tuberous sclerosis complex
EDAT- 2013/06/05 06:00
MHDA- 2013/06/05 06:01
PMCR- 2013/06/01
CRDT- 2013/06/05 06:00
PHST- 2012/06/22 00:00 [received]
PHST- 2012/07/13 00:00 [revised]
PHST- 2012/07/24 00:00 [accepted]
PHST- 2013/06/05 06:00 [entrez]
PHST- 2013/06/05 06:00 [pubmed]
PHST- 2013/06/05 06:01 [medline]
PHST- 2013/06/01 00:00 [pmc-release]
AID - CN-10-404 [pii]
AID - 10.2174/157015912804143595 [doi]
PST - ppublish
SO  - Curr Neuropharmacol. 2012 Dec;10(4):404-15. doi: 10.2174/157015912804143595.