ArticleEuropean journal of human genetics : EJHG2009
A reliable cell-based assay for testing unclassified TSC2 gene variants.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- An integrated, scaled approach to resolve TSC2 variants of uncertain significance.Nature communications · 2026Article
- An integrated, scaled approach to resolve TSC2 variants of uncertain significance.bioRxiv : the preprint server for biology · 2026Article
- Article
- In-Cell Western Assay in Ferroptosis.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Genetic analysis of 18 families with tuberous sclerosis complex.Neurogenetics · 2022Article
- First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.Scientific reports · 2020Article
- An exploration of conditions proposed to trigger the Ebola virus glycoprotein for fusion.PloS one · 2019Article
- Article
- A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.Nature cell biology · 2013Article
- The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits.BMC biochemistry · 2012Article
- Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.European journal of human genetics : EJHG · 2011Article
- Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.European journal of human genetics : EJHG · 2011Article
- Article
- Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.BMC medical genetics · 2009Article
- Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.Neurobiology of disease · 2009Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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