Biochemical Characterisation of TSC1 and TSC2 Variants Identified in Patients with Tuberous Sclerosis Complex

Abstract

The key findings of the project during the research period (1/7/07 - 31/7/10) are as follows: 1. Derivation and functional testing of 107 TSC2 variants: 69 classified as pathogenic; 38 classified as probably neutral.. 2. Development of an In-Cell Western assay to measure TSC1-TSC2 activity. 3. Demonstration that TSC1 missense mutations inactivate the TSC1-TSC2 complex to cause TSC. 4. Derivation and functional testing of 45 unclassified TSC1 variants: 16 classified as pathogenic; 29 classified as probably neutral 5. Identification of TSC1 functional domains. 6. Improvements in assay cost, throughput and reproducibility.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2010
Accession Number
ADA624706

Entities

People

  • Dicky Halley
  • Marianne Hoogeveen-westerveld
  • Mark Nellist

Organizations

  • Erasmus MC

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  • Biomedical Research
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