Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction

Marianne Hoogeveen - Westerveld, Carla Exalto, JA Maat-Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

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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 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. (C) 2010 Elsevier B.V. All rights reserved.
Original languageUndefined/Unknown
Pages (from-to)774-781
Number of pages8
JournalBiochimica et Biophysica Acta-Molecular Basis of Disease
Volume1802
Issue number9
DOIs
Publication statusPublished - 2010

Research programs

  • EMC MGC-02-96-01

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