Article
Tuberous sclerosis complex: molecular pathogenesis and animal models.
Neurosurgical focus - 15 Jan 2006
Piedimonte Leandro R, Wailes Ian K, Weiner Howard L
Abstract excerpt
Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hamartin and tuberin, which form a functional signaling complex. Disruption of these genes in the brain results in abnormal cellular differentiation, migration, and proliferation, giving rise to the characteristic brain lesions of tuberous sclerosis complex (TSC)...
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