ArticleEuropean journal of human genetics : EJHG2009
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
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 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.PloS one · 2026Article
- Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex.Human mutation · 2025Article
- Epilepsy Characteristics in Neurodevelopmental Disorders: Research from Patient Cohorts and Animal Models Focusing on Autism Spectrum Disorder.International journal of molecular sciences · 2022Review
- The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.Frontiers in genetics · 2020Article
- Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.Scientific reports · 2017Article
- Review
- Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex.Neuro-oncology · 2015Review
- Genotype and cognitive phenotype of patients with tuberous sclerosis complex.European journal of human genetics : EJHG · 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
- Phosphatidylinositol 3-kinase (PI3K) pathway activation in bladder cancer.Cancer metastasis reviews · 2009Review
- 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
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Authors and funding
16 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by 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). Here we investigate the effects of putative TSC1 missense mutations identified in individuals with signs and/or symptoms of TSC on TSC1-TSC2 complex formation and mTOR signalling. We show that specific amino-acid substitutions close to the N-terminal of TSC1 reduce steady-state levels of TSC1, resulting in the activation of mTOR signalling and leading to the symptoms of TSC.
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