Tuberous sclerosis: from tubers to mTOR

被引：266

作者：

Kwiatkowski, DJ ^{[1
]}

机构：

[1] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Med,Hematol Div, Boston, MA 02115 USA

来源：

ANNALS OF HUMAN GENETICS | 2003年 / 67卷

关键词：

D O I：

10.1046/j.1469-1809.2003.00012.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：87 / 96

页数：10

共 59 条

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