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lüll Tuberous sclerosis: from tubers to mTOR Kwiatkowski DJAnn Hum Genet 2003[Jan]; 67 (Pt 1): 87-96Tuberous 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.|Animals[MESH]|Protein Kinases/*metabolism[MESH]|Proteins/*genetics/metabolism[MESH]|Repressor Proteins/*genetics[MESH]|Signal Transduction[MESH]|TOR Serine-Threonine Kinases[MESH]|Tuberous Sclerosis Complex 1 Protein[MESH]|Tuberous Sclerosis Complex 2 Protein[MESH]|Tuberous Sclerosis/*genetics/metabolism/physiopathology[MESH]|Tumor Suppressor Proteins[MESH] |