Tuberous sclerosis: from tubers to mTOR

DJ Kwiatkowski - Annals of human genetics, 2003 - Wiley Online Library
Annals of human genetics, 2003Wiley Online Library
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 …
Summary
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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