Article
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Human mutation - 1 Jan 2013
Hoogeveen-Westerveld Marianne, Ekong Rosemary, Povey Sue, Mayer Karin, Lannoy Nathalie, Elmslie Frances, Bebin Martina, Dies Kira, Thompson Catherine, Sparagana Steven P, Davies Peter, van Eeghen Agnies M, Thiele Elizabeth A, van den Ouweland Ans, Halley Dicky, Nellist Mark
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a complex that inhibits the mammalian target of rapamycin (mTOR) complex 1 (TORC1). Here, we investigate the effects of 78 TSC2 variants identified in individuals suspected of TSC, on the function of the TSC1-TSC2 complex. According to our...
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