Gene interactions and pathways from curated databases and text-mining
Eur J Hum Genet 2009, PMID: 18854862

A reliable cell-based assay for testing unclassified TSC2 gene variants.

Coevoets, Ricardo; Arican, Sermin; Hoogeveen-Westerveld, Marianne; Simons, Erik; van den Ouweland, Ans; Halley, Dicky; Nellist, Mark

Tuberous sclerosis complex (TSC) is characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene or the TSC2 gene. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR). We have developed a straightforward, semiautomated in-cell western (ICW) assay to investigate the effects of amino acid changes on the TSC1-TSC2-dependent inhibition of mTOR activity. Using this assay, we have characterised 20 TSC2 variants identified in individuals with TSC or suspected of having the disease. In 12 cases, we concluded that the identified variant was pathogenic. The ICW is a rapid, reproducible assay, which can be applied to the characterisation of the effects of novel TSC2 variants on the activity of the TSC1-TSC2 complex.

Diseases/Pathways annotated by Medline MESH: Tuberous Sclerosis
Document information provided by NCBI PubMed

Text Mining Data

mTOR ⊣ TSC1-TSC2: " We have developed a straightforward, semiautomated in-cell western ( ICW ) assay to investigate the effects of amino acid changes on the TSC1-TSC2 dependent inhibition of mTOR activity "

mTOR ⊣ TSC1-TSC2: " We have developed a straightforward, semiautomated in-cell western ( ICW ) assay to investigate the effects of amino acid changes on the TSC1-TSC2 dependent inhibition of mTOR activity "

Manually curated Databases

No curated data.