A Genetic Approach to Define the Importance of Rheb in Tuberous Sclerosis
Final addendum, 15 Dec 2006-14 Dec 2007
CALIFORNIA UNIV LOS ANGELES
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This report summarizes our accomplishments in characterizing the TSCRhebmTOR signaling pathway that is altered in tuberous sclerosis. We have generated mice with decreased expression of Rheb1. We have succeeded in raising an antibody against mouse Rheb2. Effects of the TSCRhebmTOR signaling on cell cycle progression have been investigated and we have obtained results suggesting the involvement of p27 and AMPK. Novel activating mutations of mTOR have been identified and they were used to investigate the consequences of the activation of the TSCRhebmTOR signaling pathway on cell physiology. Our study makes significant contribution to understand how the TSCRhebmTOR signaling pathway is regulated. The results we obtained make important contribution to the understanding of tuberous sclerosis.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research