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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Animals
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Protein Kinases / metabolism*
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Proteins / genetics*
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Proteins / metabolism
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Repressor Proteins / genetics*
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Signal Transduction
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TOR Serine-Threonine Kinases
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Tuberous Sclerosis / genetics*
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Tuberous Sclerosis / metabolism
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Tuberous Sclerosis / physiopathology
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins
Substances
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Proteins
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Repressor Proteins
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Tuberous Sclerosis Complex 1 Protein
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Tuberous Sclerosis Complex 2 Protein
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Tumor Suppressor Proteins
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Protein Kinases
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TOR Serine-Threonine Kinases