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Tsc1 is involved in regulation of interactive network between the cilium and the TOR pathway.
Each TBC1D7 (show TBC1D7 ELISA Kits) molecule interacts simultaneously with two parallel TSC1 helices from two TSC1 molecules, suggesting that TBC1D7 (show TBC1D7 ELISA Kits) may stabilize the TSC (show SLC12A3 ELISA Kits) 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 (show TSC2 ELISA Kits) protein in tuberous sclerosis complex.
AKT3 (show AKT3 ELISA Kits) has a role in prostate cancer proliferation through regulation of Akt (show AKT1 ELISA Kits), B-Raf (show SNRPE ELISA Kits), and TSC1/TSC2 (show TSC2 ELISA Kits)
Tsc1 transgenic mice exhibit an age-dependent seizure pattern sequence mimicking early human tuberous sclerosis complex epilepsy.
PAK2 (show PAK2 ELISA Kits) is a direct effector of TSC1-TSC2 (show TSC2 ELISA Kits)-RHEB (show RHEB ELISA Kits) signaling and a new target for rational drug therapy in TSC (show SLC12A3 ELISA Kits).
These findings indicate that Tsc1 prevents aberrant renal growth and tumorigenesis by inhibiting mTORC1 signaling, whereas phosphorylated rpS6 (show RPS6 ELISA Kits) 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 (show TSC2 ELISA Kits)).
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 (show TSC2 ELISA Kits) mutations are associated with tuberous sclerosis.
TSC (show SLC12A3 ELISA Kits)-related tumors can increase the mutation detection rate, indicate that it is not likely that a third TSC (show SLC12A3 ELISA Kits) gene exists, and enable provision of genetic counseling to the substantial population of TSC (show SLC12A3 ELISA Kits) individuals who are currently NMI (show MYO1C ELISA Kits)
TSC1 knockout mice are lean, glucose intolerant with a decreased activation of protein kinase B (Akt/PKB (show AKT1 ELISA Kits)) 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 ELISA Kits)-Cre allele. This mouse displayed accelerated formation of both kidney cystadenomas and paw hemangiosarcomas.
PLK1 (show PLK1 ELISA Kits) protein levels are increased in hamartin and tuberin (show TSC2 ELISA Kits) 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 ELISA Kits) receptors in an mTOR (show FRAP1 ELISA Kits)-dependent manner, exhibit recurrent, unprovoked seizures during early postnatal life, that can be treated with GluN2C (show GRIN2C ELISA Kits) antagonists.
The findings define a key role for TSC1 in orchestrating macrophage polarization via mTOR (show FRAP1 ELISA Kits)-dependent and independent pathways.
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