Gene interactions and pathways from curated databases and text-mining
J Neurooncol 2006, PMID: 16552619

Hamartin and tuberin modulate gene transcription via beta-catenin.

Jozwiak, Jaroslaw; Wlodarski, Pawel

Tuberous sclerosis, neurological genetic disorder characterized by the formation of benign tumors or hamartomas in multiple organ systems, is recently getting much attention. Numerous papers describe still-not-fully-explained pathogenesis of the disease. Studies on tuberous sclerosis allowed identification of two tumor suppressor genes, TSC1 and TSC2, encoding proteins implicated in the disease: hamartin and tuberin, respectively. The importance of these proteins is confirmed by their ubiquitous character and by the fact that TSC1/TSC2 complex is involved in the regulation of the activity of mTOR, a master controller of protein translation. Thus, the meaning of hamartin and tuberin goes far beyond tuberous sclerosis. As far as the influence of the TSC1/TSC2 complex on protein translation is well described in numerous reviews, little attention is drawn to the recently discovered role of the TSC1/TSC2 complex in gene transcription via the WNT signaling pathway. The present paper focuses on recent developments documenting the role of hamartin and tuberin in the WNT pathway.

Diseases/Pathways annotated by Medline MESH: Brain Neoplasms, Tuberous Sclerosis
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Text Mining Data

mTOR ⊣ TSC1/TSC2 complex: " The importance of these proteins is confirmed by their ubiquitous character and by the fact that TSC1/TSC2 complex is involved in the regulation of the activity of mTOR , a master controller of protein translation "

Manually curated Databases

No curated data.