The aim of this study was to investigate the role and regulatory mechanisms of Akt/TSC1-TSC2/mTOR signal pathway on the ...
...TSC1 or TSC2 mutations, detailed ophthalmic examination findings, systemic manifestations, and whether or not the patien...
...TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. ...
...TSC1) or TSC2 genes, causes protein synthesis dysregulation, increased cell size, and aberrant neuronal connectivity. Dy...
...Tsc1 conditional knockout (cKO) mice treated with simufilam or vehicle twice daily (BID). Simufilam plasma concentration...
...TSC1 ((2/11), 18.2%)), and 1 had both NOTCH1 and NOTCH4 ((1/11), 9.1%)). Wild-type status was found in 2/11 (18.2%) pati...
...TSC1, 1 TSC2). Pathogenic variants in mTOR pathway genes were exclusively found in FCDII and TSC cases, with a significa...
...TSC1 were upregulated, while SIRT1, FOXO1, and AHR were downregulated in these stem cells. Screening for LSK markers rev...
...TSC1, ATM, KDR). Pathway analysis showed possible pathways like the components of CTNNB1, AKT1, and TSC1 mutations in th...
...TSC1 or TSC2 genes. These mutations prevent the TSC1/TSC2 protein complex from forming, resulting in hyperactivation of ...
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