PMID- 19506736
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20110714
LR  - 20220316
IS  - 1389-2029 (Print)
IS  - 1875-5488 (Electronic)
IS  - 1389-2029 (Linking)
VI  - 9
IP  - 7
DP  - 2008 Nov
TI  - Genetics and molecular biology of tuberous sclerosis complex.
PG  - 475-87
LID - 10.2174/138920208786241243 [doi]
AB  - Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of 
      manifestations characterized by tumour-like lesions called hamartomas in the 
      brain, skin, eyes, heart, lungs and kidneys. Tuberous Sclerosis Complex is 
      genetically determined with an autosomal dominant inheritance and is caused by 
      inactivating mutations in either the TSC1 or TSC2 genes. TSC1/2 genes play a 
      fundamental role in the regulation of phosphoinositide 3-kinase (PI3K) signalling 
      pathway, inhibiting the mammalian target of rapamycin (mTOR) through activation 
      of the GTPase activity of Rheb. Mutations in TSC1/2 genes impair the inhibitory 
      function of the hamartin/tuberin complex, leading to phosphorylation of the 
      downstream effectors of mTOR, p70 S6 kinase (S6K), ribosomal protein S6 and the 
      elongation factor binding protein 4E-BP1, resulting in uncontrolled cell growth 
      and tumourigenesis.Despite recent promising genetic, diagnostic, and therapeutic 
      advances in Tuberous Sclerosis Complex, continuing research in all aspects of 
      this complex disease will be pivotal to decrease its associated morbidity and 
      mortality. In this review we will discuss and analyse all the important findings 
      in the molecular pathogenesis of Tuberous Sclerosis Complex, focusing on genetics 
      and the molecular mechanisms that define this multisystemic disorder.
FAU - Napolioni, Valerio
AU  - Napolioni V
AD  - Laboratory of Human Genetics, Department of Molecular, Cellular and Animal 
      Biology, University of Camerino, Camerino, Italy.
FAU - Curatolo, Paolo
AU  - Curatolo P
LA  - eng
PT  - Journal Article
PL  - United Arab Emirates
TA  - Curr Genomics
JT  - Current genomics
JID - 100960527
PMC - PMC2691673
OTO - NOTNLM
OT  - Tuberous sclerosis
OT  - genetics
OT  - germ-line mosaicism
OT  - hamartin
OT  - multifactorial disease
OT  - mutations
OT  - rapamycin.
OT  - tuberin
EDAT- 2009/06/10 09:00
MHDA- 2009/06/10 09:01
PMCR- 2009/05/01
CRDT- 2009/06/10 09:00
PHST- 2008/06/29 00:00 [received]
PHST- 2008/07/21 00:00 [revised]
PHST- 2008/07/26 00:00 [accepted]
PHST- 2009/06/10 09:00 [entrez]
PHST- 2009/06/10 09:00 [pubmed]
PHST- 2009/06/10 09:01 [medline]
PHST- 2009/05/01 00:00 [pmc-release]
AID - CG-9-475 [pii]
AID - 10.2174/138920208786241243 [doi]
PST - ppublish
SO  - Curr Genomics. 2008 Nov;9(7):475-87. doi: 10.2174/138920208786241243.