"TSC1 and TSC2 gene products—hamartin and tuberin, respectively—are components of a complex that negatively regulates mTOR signaling and, correspondingly, inactivation of TSC1 or TSC2 is associated wit[MISSING/INVALID API KEY: limited to 200 char for Elsevier]"
"Here we explored the hypothesis that mutations in MTOR , TSC1 or TSC2 are associated with response to rapalog therapy."
"For example, mutations in MTOR, TSC1 , or TSC2 were associated with response to mTOR inhibitors, 21% in responders versus 11% in non-responders ( xref )."
"Interaction of hamartin with tuberin forms a heterodimer that inhibits signaling by the mammalian target of rapamycin to its downstream targets: eukaryotic initiation factor 4E-binding protein 1 (4E-BP1) and ribosomal protein S6 kinase 1 (S6K1)."
"Mutations of either tuberous sclerosis 1 (TSC1) or TSC2 are associated with aberrant activation of mammalian target of rapamycin (mTOR) pathway, which increases the risk of RCC ( xref , xref )."
"Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin complex (mTOR)."
"This is achieved via directly phosphorylation of Ser 1345 and Thr 1227 on the tumour suppressor protein tuberous sclerosis 2 (TSC2), which forms an mTOR complex 1 (mTORC1)-inhibitory complex with TSC1 [ xref ]."
"The genes code for the proteins hamartin (TSC1) and tuberin (TSC2) which form a complex that regulates the mTOR cell signalling pathway, responsible for important aspects of cell growth and differentiation [ xref ]."
"These results suggest that the identified TSC1 and TSC2 mutations are closely associated with both aberrant mTOR activation and dysregulation of neuronal growth in individuals with FCDII."
"In addition, TSC1 and TSC2 , which form a complex that negatively regulates mTOR activity, demonstrate decreased mRNA and protein levels in GBMs compared to grade II tumors and non-tumor brain."