Article
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
Human mutation - 1 Apr 2020
Dufner Almeida Luiz G, Nanhoe Santoesha, Zonta Andrea, Hosseinzadeh Mitra, Kom-Gortat Regina, Elfferich Peter, Schaaf Gerben, Kenter Annegien, Kümmel Daniel, Migone Nicola, Povey Sue, Ekong Rosemary, Nellist Mark
Abstract excerpt
The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC, and the identification of a pathogenic TSC1 or TSC2 variant helps establish a diagnosis of TSC. However, it is not always clear whether TSC1 and TSC2 variants are inactivating. To determine...
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