Tuberous Sclerosis: from Tubers to mTOR

作者：D J Kwiatkowski · 发表于：Annals of Human Genetics · 年份：2003 · DOI：10.1046/j.1469-1809.2003.00012.x · 被引用次数：339 · 研究领域：Tuberous Sclerosis Complex Research、Corporate Governance and Law、Kruppel-like factors research

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.