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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 04 Jul 2015.

Tuberous sclerosis 1

Tumor Suppressor, TSC1
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] (from NCBI)
Top mentioned proteins: TSC2, mTOR, mTORC1, CAN, Akt
Papers on Tumor Suppressor
Neurological and neuropsychiatric aspects of tuberous sclerosis complex.
Review
New
Impact
de Vries et al., Roma, Italy. In Lancet Neurol, 31 Jul 2015
Mutations in the TSC1 or TSC2 genes lead to disruption of the TSC1-TSC2 intracellular protein complex, causing overactivation of the mammalian target of rapamycin (mTOR) protein complex.
Long-Term Everolimus Treatment in Individuals With Tuberous Sclerosis Complex: A Review of the Current Literature.
Review
New
Zupanc et al., Orange, United States. In Pediatr Neurol, 31 Jul 2015
BACKGROUND: Tuberous sclerosis complex is a genetic disease usually caused by mutations to either TSC1 or TSC2, where its gene products are involved in the inhibition of the mammalian target of rapamycin pathway.
Tumor Suppressor Activity of Klotho in Breast Cancer is Revealed by Structure-function Analysis.
New
Wolf et al., Tel Aviv-Yafo, Israel. In Mol Cancer Res, 25 Jul 2015
Data from a wide array of malignancies indicate klotho as a tumor suppressor; however, the structure-function relationships governing its tumor suppressor activities have not been deciphered.
Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement.
New
Marchiori et al., Rio de Janeiro, Brazil. In Lung, 24 Jul 2015
Common manifestations of TSC include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis (LAM), renal angiomyolipoma, and skin lesions.
Molecular Determinants for the Inactivation of the Retinoblastoma Tumor Suppressor by the Viral Cyclin-dependent Kinase UL97.
New
Kalejta et al., Madison, United States. In J Biol Chem, 21 Jul 2015
UNASSIGNED: The retinoblastoma (Rb) tumor suppressor restricts cell cycle progression by repressing E2F-responsive transcription.
The genetic landscape and biomarkers of hepatocellular carcinoma.
New
Llovet et al., Paris, France. In Gastroenterology, 19 Jul 2015
TP53 and CTNNB1 are the next most prevalent mutations, affecting 25-30% of HCC patients, that in addition to low frequency mutated genes (e.g., AXIN1, ARID2, ARID1A, TSC1/TSC2, RPS6KA3, KEAP1, MLL2), help define some of the core de-regulated pathways in HCC.
Tuberous Sclerosis Complex.
Review
New
Ebrahimi-Fakhari et al., Hartford, United States. In Pediatr Clin North Am, 30 Jun 2015
The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13.
Mammalian target of rapamycin and tuberous sclerosis complex.
Review
New
Wataya-Kaneda, Ōsaka, Japan. In J Dermatol Sci, May 2015
TSC is a multiple hamartomas syndrome with epilepsy, autism, mental retardation and hypopigmented macules that are caused by the constitutive activation of mTORC1 resulting from genetic mutation of TSC1 or TSC2.
Clinical features, epidemiology, and therapy of lymphangioleiomyomatosis.
Review
New
Moss et al., Bethesda, United States. In Clin Epidemiol, Dec 2014
LAM is caused by mutations of the TSC1 or TSC2 genes, which encode, respectively, hamartin and tuberin, two proteins with a major role in control of the mammalian target of rapamycin (mTOR) signaling pathway.
miR-9 Modulates Osteosarcoma Cell Growth by Targeting the GCIP Tumor Suppressor.
New
Liu et al., Tianjin, China. In Asian Pac J Cancer Prev, Dec 2014
Osteosarcoma is the most common primary bone tumor in humans, especially in childhood.
Correction: The Tumor Suppressor Gene, RASSF1A, Is Essential for Protection against Inflammation -Induced Injury.
New
Baksh et al., In Plos One, Dec 2014
UNASSIGNED: [This corrects the article DOI: 10.1371/journal.pone.0075483.].
Coordinated regulation of protein synthesis and degradation by mTORC1.
New
Impact
Manning et al., Boston, United States. In Nature, Oct 2014
Genetic activation of mTORC1 through loss of the tuberous sclerosis complex tumour suppressors, TSC1 or TSC2, or physiological activation of mTORC1 in response to growth factors or feeding resulted in increased NRF1 expression in cells and tissues.
Molecular genetics of clear-cell renal cell carcinoma.
New
Impact
Brugarolas, Dallas, United States. In J Clin Oncol, Jul 2014
Several additional tumor suppressor genes have been identified near the VHL gene, within a region that is frequently deleted in ccRCC on chromosome 3p: SETD2, BAP1, and PBRM1.
Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome.
New
Impact
Manning et al., Boston, United States. In Cell, Mar 2014
Insulin activates mTORC1 through the PI3K-Akt pathway, which inhibits the TSC1-TSC2-TBC1D7 complex (the TSC complex) to turn on Rheb, an essential activator of mTORC1.
mTORC1: turning off is just as important as turning on.
New
Impact
Hall et al., Basel, Switzerland. In Cell, Mar 2014
show that mTORC1 deactivation on the lysosome is determined by recruitment of its negative regulator, the tumor suppressor complex TSC1-TSC2.
Genome sequencing identifies a basis for everolimus sensitivity.
Impact
GeneRIF
Solit et al., New York City, United States. In Science, 2012
Targeted sequencing revealed TSC1 mutations in about 8% of 109 additional bladder cancers examined, and TSC1 mutation correlated with everolimus sensitivity.
Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.
GeneRIF
Singh et al., Cleveland, United States. In Ophthalmology, 2012
TSC2 mutations are more frequent in patients with retinal findings than in those without retinal findings.
Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
GeneRIF
Ki et al., Seoul, South Korea. In Pediatr Neurol, 2012
This study presented that the mutation rate of the TSC1 and TSC2 genes in Korean patients with tuberous sclerosis complex was 100%.
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
GeneRIF
Nellist et al., Rotterdam, Netherlands. In Hum Mutat, 2012
New data confirm finding that the N-terminal region of TSC1 is essential for TSC1 function.
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex.
GeneRIF
Kwiatkowski et al., Boston, United States. In Proc Natl Acad Sci U S A, 2011
TSC brain model provides insights into the pathogenesis and organelle dysfunction of giant cells, as well as epilepsy control in patients with TSC
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