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      Tuberous sclerosis: from tubers to mTOR.

      Annals of Human Genetics
      Animals, Protein Kinases, metabolism, Proteins, genetics, Repressor Proteins, Signal Transduction, TOR Serine-Threonine Kinases, Tuberous Sclerosis, physiopathology, Tumor Suppressor Proteins

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          Abstract

          Tuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome whose causative genes (TSC1 and TSC2) were identified 5 and 9 years ago respectively. Their encoded proteins are large, and apart from a strong binding interaction with each other, relatively little was known about their biochemical function. Recent studies in Drosophila have pinpointed a critical function for the DrosophilaTSC1/TSC2 homologues in the regulation of cell size. Epistasis experiments and a variety of biochemical studies that followed have indicated a critical function for these proteins in the highly conserved PI-3-kinase-Akt-mTOR signalling pathway.

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