TY - JOUR
T1 - Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
AU - Hoogeveen - Westerveld, Marianne
AU - Exalto, Carla
AU - Maat-Kievit, JA
AU - van den Ouweland, Ans
AU - Halley, Dicky
AU - Nellist, Mark
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
U2 - 10.1016/j.bbadis.2010.06.004
DO - 10.1016/j.bbadis.2010.06.004
M3 - Article
C2 - 20547222
SN - 0925-4439
VL - 1802
SP - 774
EP - 781
JO - Biochimica et Biophysica Acta-Molecular Basis of Disease
JF - Biochimica et Biophysica Acta-Molecular Basis of Disease
IS - 9
ER -