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 target of rapamycin complex 1 (TORC1). Here we investigate TSC1 structure and function by analysing a series of truncated TSC1 proteins. We identify specific regions of the protein that are important for TSC1 stability, localisation, interactions and function.

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Biochimica et Biophysica Acta - Molecular Basis of Disease
Erasmus MC: University Medical Center Rotterdam

Hoogeveen-Westerveld, M, Exalto, C, Maat-Kievit, A.A, van den Ouweland, A.M.W, Halley, D, & Nellist, M. (2010). Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1802(9), 774–781. doi:10.1016/j.bbadis.2010.06.004