cqvip:In a tuberous sclerosis patient with a mutation in the TSC1 tumor suppressor g ene, no second hit mutation was found in a resected cortical tuber. Tuber giant cells showed predominantly nuclear hamartin, cytosolic tuberin, and hyperphosph orylation of S6. Differential accumulation of hamartin and tuberin in separate c ellular compartments of giant cells may prevent formation of the hamartin tuber in complex, resulting in increased S6 phosphorylation. These data provide an alt ernative mechanism for tuberogenesis.
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