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Kwiatkowski, D.J.

Kwiatkowski,

Tuberous sclerosis: from tubers to mTOR.

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.[1]

References

Tuberous sclerosis: from tubers to mTOR. Kwiatkowski, D.J. Ann. Hum. Genet. (2003) [Pubmed]

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