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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 22 Nov 2014.

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, CAN, Akt, mTORC1
Papers on Tumor Suppressor
Antibody αPEP13h Reacts with Lymphangioleiomyomatosis Cells in Lung Nodules.
New
Moss et al., In Chest, 20 Dec 2014
lymphangioleiomyomas) and kidney (e.g., angiomyolipomas) of abnormal smooth muscle-like LAM cells, which express melanoma antigens such as Pmel17/gp100 and have dysfunctional tumor suppressor tuberous sclerosis complex (TSC) genes TSC2 or TSC1.
The Nuclear Orphan Receptor NR4A1 and NR4A3 as Tumor Suppressor in Hematologic Neoplasms.
New
Deutsch et al., Graz, Austria. In Curr Drug Targets, 19 Dec 2014
UNLABELLED: NR4A1 (Nur77) belongs together with NR4A2 (Nurr1) and NR4A3 (NOR-1) to the nuclear orphan receptors of the NR4A-family.
The Tumor Suppressor rpl36 Restrains KRAS(G12V)-Induced Pancreatic Cancer.
New
Leach et al., Baltimore, United States. In Zebrafish, 07 Dec 2014
Recent studies indicate an additional role for ribosomal proteins as candidate tumor suppressor genes.
CK2 Phosphorylates and Inhibits TAp73 Tumor Suppressor Function to Promote Expression of Cancer Stem Cell Genes and Phenotype in Head and Neck Cancer.
New
Van Waes et al., Guangzhou, China. In Neoplasia, 31 Oct 2014
We previously showed that CK2 is often aberrantly expressed and activated in head and neck squamous cell carcinomas (HNSCC), concomitantly with mutant (mt) tumor suppressor TP53, and inactivation of its family member, TAp73.
DEAR1, a Novel Tumor Suppressor That Regulates Cell Polarity and Epithelial Plasticity.
Review
New
Killary et al., Houston, United States. In Cancer Res, 26 Oct 2014
This review will highlight the role of the novel TRIM protein DEAR1 (annotated as TRIM62) in the regulation of apical-basal polarity and acinar morphogenesis as well as its function as a chromosome 1p35 tumor suppressor and negative regulator of TGFβ-driven epithelial-mesenchymal transition (EMT).
Coordinated regulation of protein synthesis and degradation by mTORC1.
New
Impact
Manning et al., Boston, United States. In Nature, 18 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.
Targeting the genetic alterations of the PI3K-AKT-mTOR pathway: Its potential use in the treatment of bladder cancers.
Review
New
Pourquier et al., Nîmes, France. In Pharmacol Ther, Jul 2014
Despite the recent pivotal study evidencing specific mutations of TSC1 in bladder cancer patients responding to everolimus and the encouraging results obtained with other derivatives than rapalogs, few clinical trials are ongoing in bladder cancers.
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.
Genetic Modeling of PIM Proteins in Cancer: Proviral Tagging and Cooperation with Oncogenes, Tumor Suppressor Genes, and Carcinogens.
Review
New
Blanco-Aparicio et al., Madrid, Spain. In Front Oncol, Dec 2013
The PIM proteins, which were initially discovered as proviral insertion sites in Moloney-murine leukemia virus infection, are a family of highly homologous serine/threonine kinases that have been reported to be overexpressed in hematological malignancies and solid tumors.
Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation.
Review
New
Danzer et al., Cincinnati, United States. In Front Mol Neurosci, Dec 2013
Indeed, several causal mutations have been identified in patients with epilepsy, the most prominent of these being mutations in PTEN and tuberous sclerosis complexes 1 and 2 (TSC1, TSC2).
RTP801/REDD1: a stress coping regulator that turns into a troublemaker in neurodegenerative disorders.
Review
New
Malagelada et al., Barcelona, Spain. In Front Cell Neurosci, Dec 2013
Although the mechanism is not completely understood, RTP801 inactivates mTOR and Akt via the tuberous sclerosis complex (TSC1/TSC2) in many cellular contexts.
Everolimus in immunosuppressive treatment after kidney transplantation in a patient with tuberous sclerosis: case report.
New
Rutkowski et al., Gdańsk, Poland. In Transplant Proc, Dec 2013
BACKGROUND: Tuberous sclerosis complex (TSC) is an inherited disorder caused by mutations of TSC1 or TSC2 genes, resulting in constitutive activation of the mammalian target of rapamycin (mTOR) and impairment of the cell cycle.
Cumulative haploinsufficiency and triplosensitivity drive aneuploidy patterns and shape the cancer genome.
New
Impact
Elledge et al., Boston, United States. In Cell, Dec 2013
Here, we develop Tumor Suppressor and Oncogene (TUSON) Explorer, a computational method that analyzes the patterns of mutational signatures in tumors and predicts the likelihood that any individual gene functions as a tumor suppressor (TSG) or oncogene (OG).
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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