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- W2279297087 abstract "Tuberous sclerosis is an autosomal dominant disease affecting approximately 1 in 6,000 individuals. It is caused by mutations in either TSC1 on chromosome 9q34, which encodes hamartin, or TSC2 on chromosome 16p13.3, which encodes tuberin. The growths, named hamartomas, characteristically occur in different organs of patients and are speculated to result from defects in proliferation control. The observation that hamartin and tuberin can interact in vivo suggests that they might function in the same complex. Here we show that hamartin can affect proliferation control independent of the presence of functional tuberin and that binding to hamartin is not essential for tuberin to affect proliferation. Ectopic expression of hamartin negatively regulates proliferation to a similar extent in tuberin-positive and tuberin-negative cells; this is accompanied by binding to tuberin and upregulation of endogenous p27 in tuberin-positive cells and is without effects on p27 expression in the latter. Our data show for the first time that TSC proteins possess separable functions. We further demonstrate that hamartin can deregulate proliferation control by different mechanisms depending on the presence of tuberin. Besides an overlap in many features of patients with TSC1 and TSC2 mutations, data has accumulated that provides evidence for specific clinical differences. This study provides new insights into the cellular roles of TSC proteins and initiates a discussion of whether separable functions of these proteins might be associated with the clinical differences of TSC1- and TSC2-associated disease." @default.
- W2279297087 created "2016-06-24" @default.
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- W2279297087 date "2002-02-01" @default.
- W2279297087 modified "2023-09-26" @default.
- W2279297087 title "Evidence for Separable Functions of Tuberous Sclerosis Gene Products in Mammalian Cell Cycle Regulation" @default.
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- W2279297087 doi "https://doi.org/10.1093/jnen/61.2.154" @default.
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