Article
Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.
Cellular and molecular life sciences : CMLS - 1 Aug 2006
Hallam T M, Bourtchouladze R
Abstract excerpt
Rubinstein-Taybi syndrome (RTS) is a rare human genetic disorder characterized by mental retardation and physical abnormalities. Many RTS patients have a genetic mutation which has been mapped to chromosome 16p13.3, a genomic region encoding cyclic AMP (cAMP) response element binding protein (CREB) binding protein (CBP). CBP is a transcriptional co-activator that binds to CREB when the latter is phosphorylated...
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