Tuberous sclerosis: from tubers to mTOR.

  title={Tuberous sclerosis: from tubers to mTOR.},
  author={David J Kwiatkowski},
  journal={Annals of human genetics},
  volume={67 Pt 1},
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… CONTINUE READING
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