TSC1/TSC2
AKT3 promotes prostate cancer proliferation cells through regulation of Akt, B-Raf & TSC1/TSC2
... tissues. We noticed that the fold changes of AKT3 mRNA between normal vs. malignant prostate issues is small. However, protein is the actual players involved in most biological process. The IHC staining (Figure 2) ...
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Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K Akt signaling through downregulation of PDGFR
... these Tsc2-null cells, because LY294002 inhibits mTOR as well as PI3K ...of Tsc2-null p53-null cells in 10% serum was virtually iden- tical to that of control p53-null ...the Tsc2-null p53-null cells ...
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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder
... candidates, TSC1, TSC2, MYCBP2, RHEB and FBXO45, based upon their critical roles in ...MYCBP2, TSC1 and TSC2, we observed a few rare inherited single nucleotide variants in ASD probands, but a ...
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Role of the Tsc1-Tsc2 Complex in Signaling and Transport Across the Cell Membrane in the Fission Yeast Schizosaccharomyces pombe
... yeast tsc1 ⴙ and tsc2 ⴙ : On the basis of sequence incomplete tetrads (Table 1, Figure ...both tsc1 ⫹ and int6 ⫹ genes, however, caused a unique man TSC1 and TSC2 genes in the fission ...
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Schmid, Maria (2017): Genotyp-Phänotyp-Korrelation beim Tuberöse-Sklerose-Komplex: Auswertung der Mutationsanalyse von TSC1 und TSC2 aus der Diagnostik von TSC-Patienten und Vergleich unterschiedlicher Techniken. Dissertation, LMU München: Medizinische Fakultät
... eine TSC2-Mutation. Ein ähnliches Verhältnis (1:4 TSC1:TSC2) findet sich bei Au et ...von TSC1 könnte die geringere Größe mit kleinerer kodierender Region und weniger Exons sein [2, 19, ...bei ...
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Tuberous sclerosis complex: everything old is new again
... [46]). These findings were rapidly confirmed in mammalian tissues and cells and extended to identify complex regulatory pathways with multiple upstream and down- stream kinases (Fig. 2). These cascades culminate to ...
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12858_2016_article_69.pdf
... the TSC1-TSC2 complex is a critical negative regulator of mTORC1 and that TSC1/2 deficient cells have reduced autophagy via mTORC1-dependent inhibition and phos- phorylation of ULK1 at S757, we ...
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The Role of TSC2 and Deptor in Fetal Cortical Development
... the TSC1 or TSC2 ...disorders. TSC1 and TSC2 proteins form a heterodimeric complex that serves to inhibit mammalian target of rapamycin (mTOR) signaling ...pathway. TSC1 and TSC2 ...
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Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation
... mutant TSC2 protein enhanced the activation of the mTOR signaling pathway in HEK293T cells, suggesting that the novel mutation represents a loss-of-function mutation as are other TSC mutations associated with TSC ...
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TORC1 Signaling Is Governed by Two Negative Regulators in Fission Yeast
... T HE target of rapamycin (TOR) plays vitally important roles in regulating cell growth and metabolism. TOR interacts with several proteins to form two structurally and functionally distinct complexes named TOR complex 1 ...
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PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR
... phosphorylates TSC2 which disrupts the association of the TSC1/TSC2 protein complex with the membrane, which is required for its function as a GTPase-activating protein (GAP) for Ras homo- log ...
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Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation
... against TSC1 or TSC2 was due to enhanced mTORC1 activity, we treated the cells with the mTORC1 allosteric inhibitor ...both TSC1- and TSC2-knockdown cells (Figure 2, A and E, and Supplemental ...
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Durable response to anti-PD-1 immunotherapy in epithelioid angiomyolipoma: a report on the successful treatment of a rare malignancy
... Angiomyolipomas (AMLs) are neoplasms thought to arise from pericites, hence belonging to the family of perivasci- ular epithelioid cell neoplasms (PEComas). Though asso- ciated with tuberous sclerosis complex (TSC), most ...
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Identification and analysis of mutations in the TSC1 gene
... and TSC2 associated ...of TSC2 including GAP ...of TSC2 in this cell line containing the N term inal coiled coil dom ain know n to interact w ith ham ...
299
An emerging role for TOR signaling in mammalian tissue and stem cell physiology
... the TSC1/2-mediated repression of Ras homolog enriched in brain (Rheb) and allowing activation of ...of TSC2 and through regulatory associated protein of mTOR (raptor) ...The TSC1/2 complex thus acts ...
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A brain proteomic investigation of rapamycin effects in the Tsc1 +/− mouse model
... The hyperactivation of mTOR induced by Tsc1 and Tsc2 heterozygosity can be inhibited by mTOR inhibi- tors, such as the macrolide rapamycin. Rapamycin is an immunosuppressant, which is widely prescribed to ...
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Targeting Rb Mutant Cancers by Inactivating TSC2
... in TSC2 (or TSC1) result in a disease called Tuberous sclerosis that causes benign tumors in several different organs as well as neural defects (reviewed in ...[5-7]). TSC1 and TSC2 are part ...
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Early manifestations of renal disease in patients with tuberous sclerosis complex
... Subjects were assigned to one of three groups based on the results of their genetic testing: 1) TSC1 mutation, 2) TSC2 mutation, or 3) unidentified mutation. Results were expressed as absolute numbers, ...
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Genetics of tuberous sclerosis complex: implications for clinical practice
... Genetic testing might also be considered in individuals who have a possible diagnosis of TSC based on the diag- nostic criteria listed in Table 1 (either one major feature or two or more minor features). Detection of a ...
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TSC2-deficient tumors have evidence of T cell exhaustion and respond to anti–PD-1/anti–CTLA-4 immunotherapy
... tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder ...syngeneic TSC2-deficient cells, anti–PD-1 alone decreased 105K tumor growth by 67% ...
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