Research

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
DOI: 10.1016/j.scr.2018.05.019 PMID: 29883886

Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP

Publication date: 05/30/2018
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish
DOI: 10.1016/j.bbadis.2018.01.029 PMID: 29409755

EP300 is a member of the EP300/CBP family of lysine acetyltransferases (KATs) with multiple roles in development and physiology. Loss of EP300/CBP activity in humans causes a very rare congenital disorder called Rubinstein Taybi Syndrome (RSTS).

Publication date: 04/26/2018
Epigenetic Mechanisms of Rubinstein-Taybi Syndrome
DOI: 10.1007/s12017-013-8285-3 PMID: 24381114

Rubinstein-Taybi Syndrome (RTS) is an incurable genetic disorder with combination of mental retardation and physical features including broad thumbs and toes, craniofacial abnormalities, and growth deficiency.

Publication date: 03/01/2015