Article
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
Journal of medical genetics - 1 Nov 2013
Capo-Chichi José-Mario, Tcherkezian Joseph, Hamdan Fadi F, Décarie Jean Claude, Dobrzeniecka Sylvia, Patry Lysanne, Nadon Marc-Antoine, Mucha Bettina E, Major Philippe, Shevell Michael, Bencheikh Bouchra Ouled Amar, Joober Ridha, Samuels Mark E, Rouleau Guy A, Roux Philippe P, Michaud Jacques L
Abstract excerpt
BACKGROUND: Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. TSC1, TSC2 and the recently described protein TBC1D7 form a complex that inhibits mTORC1 signalling and limits cell growth. Although it has been proposed...
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