IndraLab

Statements


Mutated TSC2 inhibits MTOR. 5 / 5
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"The mutation of TSC2 may induce the formation of tumours by affecting mTOR inhibition."

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

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"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]."

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"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."

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