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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 01 Aug 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
Mammalian target of rapamycin and tuberous sclerosis complex.
Review
New
Wataya-Kaneda, Ōsaka, Japan. In J Dermatol Sci, 31 Aug 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.
Transcriptional Regulation of the p16 Tumor Suppressor Gene.
Review
New
Okamoto et al., Fukuoka, Japan. In Anticancer Res, 31 Aug 2015
The p16 tumor suppressor gene encodes a specific inhibitor of cyclin-dependent kinase (CDK) 4 and 6 and is found altered in a wide range of human cancers.
The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex.
New
Sahin et al., Boston, United States. In J Neurosci, 29 Aug 2015
UNLABELLED: Hyperactivation of the mechanistic target of rapamycin (mTOR) kinase, as a result of loss-of-function mutations in tuberous sclerosis complex 1 (TSC1) or TSC2 genes, causes protein synthesis dysregulation, increased cell size, and aberrant neuronal connectivity.
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of Von Hippel-Lindau Tumor Suppressor Isoforms.
New
van Wijk et al., Utrecht, Netherlands. In Hum Mutat, 29 Aug 2015
The exceptionally high erythropoietin levels and absence of VHL-associated tumors in the our patients suggests that VHLp19 has a role for regulating erythropoietin levels that VHLp30 does not have, whereas VHLp30 is really the tumor suppressor isoform.
Integrated genomic characterization of a pineal parenchymal tumor of intermediate differentiation.
New
Dunn et al., Boston, United States. In World Neurosurg, 27 Aug 2015
Targeted exome sequencing showed mutations in TSC1(L388P) and IKZF3(F206C) while high-resolution array cytogenetics revealed losses in chromosomes 2, 3, 4, 8, 10, 11, 17, and 20, leading to single copy loss of PTEN and TP53.
1, 25(OH)2D3 protects β cell against high glucose-induced apoptosis through mTOR suppressing.
New
Deng et al., Chongqing, China. In Mol Cell Endocrinol, 23 Aug 2015
Of importance, RT-PCR and Western blotting demonstrated that high glucose inhibited DNA-damage-inducible transcript 4 (DDIT4) and TSC1/TSC2, up-regulated Rheb/mTOR/p70S6K and enhanced expression of the apoptosis regulating proteins, such as phospho-Bcl-2, cytochrome C and cleaved caspase.
LMTK3 Represses Tumor Suppressor-like Genes through Chromatin Remodeling in Breast Cancer.
New
Giamas et al., London, United Kingdom. In Cell Rep, 22 Aug 2015
The LMTK3/KAP1 interaction is stabilized by PP1α, which suppresses KAP1 phosphorylation specifically at LMTK3-associated chromatin regions, inducing chromatin condensation and resulting in transcriptional repression of LMTK3-bound tumor suppressor-like genes.
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.
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.
Tuberous sclerosis complex.
Review
New
Ebrahimi-Fakhari et al., Hartford, United States. In Pediatr Clin North Am, Jun 2015
The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13.
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.
New
Jaworski et al., Warsaw, Poland. In Acta Neuropathol Commun, Dec 2014
INTRODUCTION: Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR).
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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