Biochemical Characterisation of TSC1 and TSC2 Variants Identified in Patients with Tuberous Sclerosis Complex
Final rept. 1 Jul 2007-30 Jun 2010
ERASMUS MEDICAL CENTER ROTTERDAM (NETHERLANDS)
Pagination or Media Count:
The key findings of the project during the research period 1707 - 31710 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.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research