Article
Identification and characterization of the interaction between tuberin and 14-3-3zeta.
The Journal of biological chemistry - 18 Oct 2002
Nellist Mark, Goedbloed Miriam A, de Winter Christa, Verhaaf Brenda, Jankie Anita, Reuser Arnold J J, van den Ouweland Ans M W, van der Sluijs Peter, Halley Dicky J J
Abstract excerpt
Tuberous sclerosis is caused by mutations to either the TSC1 or TSC2 tumor suppressor gene. The disease is characterized by a broad phenotypic spectrum that includes seizures, mental retardation, renal dysfunction, and dermatological abnormalities. TSC1 encodes a 130-kDa protein called hamartin, and TSC2 encodes a 200-kDa protein called tuberin. Although it has been shown that hamartin and tuberin form a complex...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.