Article
Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1
19 Aug 2009
Abstract excerpt
Tuberous sclerosis complex (TSC) is a genetic disorder linked to mutations of either the TSC1 or TSC2 gene, which encode proteins that form a complex to negatively regulate mammalian target of rapamycin complex 1 (mTORC1). Clinically, a small percentage of TSC patients develop severe infantile polycystic kidney disease (PKD), which is believed to be caused by deletion of the contiguous TSC2 and PKD1 genes on...
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