ArticleBMC medical genetics2009
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
15 citing papers in PubMed, 36 citations in OpenAlex.
- Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.PloS one · 2026Article
- New insights into tuberous sclerosis complex: from structure to pathogenesis.Frontiers in cell and developmental biology · 2025Review
- An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database.Genetics and molecular biology · 2024Article
- The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.Frontiers in genetics · 2020Article
- Signal integration in the (m)TORC1 growth pathway.Frontiers in biology · 2018Article
- Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.American journal of human genetics · 2017Article
- Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).The Journal of biological chemistry · 2016Article
- A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex.Journal of genetics · 2014Article
- STRAD pseudokinases regulate axogenesis and LKB1 stability.Neural development · 2014Article
- Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.PloS one · 2014Article
- 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
- Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2010Review
- Phosphatidylinositol 3-kinase (PI3K) pathway activation in bladder cancer.Cancer metastasis reviews · 2009Review
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundTuberous 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, form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR). Recently it has been shown that missense mutations to the TSC1 gene can cause TSC.
methodsWe have used in vitro biochemical assays to investigate the effects on TSC1 function of TSC1 missense variants submitted to the Leiden Open Variation Database.
resultsWe identified specific substitutions between amino acids 50 and 190 in the N-terminal region of TSC1 that result in reduced steady state levels of the protein and lead to increased mTOR signalling.
conclusionOur results suggest that amino acid residues within the N-terminal region of TSC1 are important for TSC1 function and for maintaining the activity of the TSC1-TSC2 complex.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.