IndraLab

"In addition in the Eker rat model, a mutant Tsc2 gene that fails to inhibit mTOR is still able to suppress tumourigenesis, and administration of rapamycin reduces the development of macroscopic tumours while having no effect on the number of microscopic precursor lesions."

"After the review of the literature and our retrospective examination of 20 lesions, we observed three common and constant components, more or less present in all varieties of TSC cutaneous hamartomas (AF, SP, FCP and FCCH):-abundant thickened collagen, associated with adnexal involvement (concentric fibrosis)-vascular hyperplasia,-cellular proliferation of fibroblasts.TSC1 or TSC2 mutations cause a defect in mTOR inhibition and promote cell proliferation but also angiogenesis and vessel modification due to increased production of VEGF by fibroblastic cells carrying the mutation [3,29]."

"Here, we report that in rat embryonic fibroblasts, activation of mammalian target of rapamycin complex 1 by a Tsc2 mutation or overexpression of a constitutively active mutant Rheb overrides the absence of the anchorage and stabilizes Cdc6 at least partly via activating Cdk4/6 that induces Emi1, an APC/C (Cdh1) ubiquitin ligase inhibitor."

"XREF_BIBR TSC1 and TSC2 mutations impair regulation of the mTOR pathway and cause tuberous sclerosis."

"The mutation of TSC2 may induce the formation of tumours by affecting mTOR inhibition."

"TSC1 or TSC2 mutations cause Tuberous Sclerosis Complex (TSC), and lead to mechanistic target of rapamycin (mTOR) hyperactivation evidenced by hyperphosphorylation of ribosomal S6 protein and 4 elongation factor binding protein (4E-BP1)."

"Tuberous Sclerosis Complex (TSC) is caused by TSC1 or TSC2 mutations, resulting in hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1)."