ArticleBMC medical genetics2008
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 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
- Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.PloS one · 2026Article
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.Genetics and molecular biology · 2024Article
- Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.Scientific reports · 2019Article
- The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis.Frontiers in cell and developmental biology · 2014Review
- Suppressed expression of autophagosomal protein LC3 in cortical tubers of tuberous sclerosis complex.Brain pathology (Zurich, Switzerland) · 2013Article
- Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.Human molecular genetics · 2012Article
- Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.European journal of human genetics : EJHG · 2011Article
- 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
- A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.Human molecular genetics · 2009Article
- A reliable cell-based assay for testing unclassified TSC2 gene variants.European journal of human genetics : EJHG · 2009Article
- Genetics and molecular biology of tuberous sclerosis complex.Current genomics · 2008Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTuberous sclerosis complex (TSC) is an autosomal dominant disorder 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 on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR).
methodsWe have used a combination of different assays to characterise the effects of a number of pathogenic TSC2 amino acid substitutions on TSC1-TSC2 complex formation and mTOR signalling.
resultsWe used these assays to compare the effects of 9 different TSC2 variants (S132C, F143L, A196T, C244R, Y598H, I820del, T993M, L1511H and R1772C) identified in individuals with symptoms of TSC from 4 different families. In each case we were able to identify the pathogenic mutation.
conclusionFunctional characterisation of TSC2 variants can help identify pathogenic changes in individuals with TSC, and assist in the diagnosis and genetic counselling of the index cases and/or other family members.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.