Article
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
Human molecular genetics - 15 Feb 2003
Kalkhoven Eric, Roelfsema Jeroen H, Teunissen Hans, den Boer Annemieke, Ariyurek Yavuz, Zantema Alt, Breuning Martijn H, Hennekam Raoul C M, Peters Dorien J M
Abstract excerpt
Disruption of one copy of the human CREB binding protein (CBP or CREBBP) gene leads to the Rubinstein-Taybi syndrome (RTS), a developmental disorder characterized by retarded growth and mental functions, broad thumbs, broad big toes and typical facial abnormalities. The CREB binding protein (CBP) is an essential transcriptional coactivator for many different transcription factors. CBP has the intrinsic ability to...
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