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Tsc1 is involved in regulation of interactive network between the cilium and the TOR pathway.
Gene expression level of TSC1 is significantly higher in AD patients when compared to normal controls.
Each TBC1D7 (show TBC1D7 Proteins) molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 (show TBC1D7 Proteins) may stabilize the TSC (show SLC12A3 Proteins) complex by tethering the C-terminal ends of two TSC1 coiled-coils.
IQ/DQ correlates inversely with predicted levels and/or deleterious biochemical effects of mutant TSC1 or TSC2 protein in tuberous sclerosis complex.
AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2
Tsc1 transgenic mice exhibit an age-dependent seizure pattern sequence mimicking early human tuberous sclerosis complex epilepsy.
PAK2 (show PAK2 Proteins) is a direct effector of TSC1-TSC2-RHEB (show RHEB Proteins) signaling and a new target for rational drug therapy in TSC (show SLC12A3 Proteins).
These findings indicate that Tsc1 prevents aberrant renal growth and tumorigenesis by inhibiting mTORC1 signaling, whereas phosphorylated rpS6 (show RPS6 Proteins) suppresses cystogenesis and fibrosis in Tsc1-deleted kidneys
Data show that 10 pathogenic mutations were quickly identified, 7 were located in tuberous sclerosis 1 protein (TSC1) and 3 were observed in tuberous sclerosis 2 protein (TSC2).
Tuberous sclerosis is a syndrome caused by dominant mutations in Hamartin (TSC1),causing Autism spectrum disorder - like behaviors, seizures, intellectual disability and characteristic brain and skin lesions.
TSC1 and TSC2 mutations are associated with tuberous sclerosis.
suppression of AKT (show AKT1 Proteins) by hyperactivation of mTORC1, inhibition on nuclear ERalpha (show ESR1 Proteins) signaling, and down-regulation of cell-cycle-driving proteins play important roles in the retarded mammary development induced by Tsc1 deletion.
TSC1 knockout mice are lean, glucose intolerant with a decreased activation of protein kinase B (Akt/PKB (show AKT1 Proteins)) targets that regulate glucose transporters in skeletal muscle.
a pivotal role for Tsc1 in regulating various aspects of visual-pathway development, is reported.
Tsc1 plays a critical role in regulating macrophage survival, function and polarization via inhibition of mTORC1 activity.
TSC1-KO results in the accumulation of transitional-1 B cells and progressive losses of B cells as they mature beyond the T1 stage. However, Peyer's patch germinal centers are unimpaired in TSC1-KO mice.
TSC1 deletion led to enhanced mTORC1 signaling in neural crest derived bones and the increase in bone formation is responsible for the aberrantly increased bone mass.
Results describe the development of new vascular mouse model with a conditional knockout allele of Tsc1 with a Darpp32 (show PPP1R1B Proteins)-Cre allele. This mouse displayed accelerated formation of both kidney cystadenomas and paw hemangiosarcomas.
PLK1 protein levels are increased in hamartin and tuberin deficient cells and Lymphangioleiomyomatosis patient-derived specimens, and that this increase is rapamycin-sensitive.
Tuberless heterozygote Tsc1+/- mice show functional up-regulation of cortical GluN2C (show GRIN2C Proteins) receptors in an mTOR (show FRAP1 Proteins)-dependent manner, exhibit recurrent, unprovoked seizures during early postnatal life, that can be treated with GluN2C (show GRIN2C Proteins) antagonists.
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.
tuberous sclerosis 1 protein
, tuberous sclerosis 1
, tumor suppressor
, tuberous sclerosis 1 protein homolog
, chromosome 9 TSC1