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Tuberous Sclerosis: from Tubers to mTOR
Author(s) -
Kwiatkowski D. J.
Publication year - 2003
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2003.00012.x
Subject(s) - tsc1 , tsc2 , tuberous sclerosis , pi3k/akt/mtor pathway , biology , function (biology) , gene , protein kinase b , epistasis , genetics , microbiology and biotechnology , signal transduction , medicine , pathology
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 Drosophila TSC1 / 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.