Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.

@article{Kalkhoven2003LossOC,
  title={Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.},
  author={Eric Kalkhoven and Jeroen H. Roelfsema and H Eric Teunissen and Annemieke Th den Boer and Yavuz Ariyurek and Alt Zantema and Martijn H. Breuning and Raoul C Hennekam and Dorien J. M. Peters},
  journal={Human molecular genetics},
  year={2003},
  volume={12 4},
  pages={441-50}
}
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 acetylate histones and other proteins, which is regarded as an important step in… CONTINUE READING