L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.

ABSTRACT: Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) and are characterized by defects in limb and craniofacial development as well as mental retardation. The developmental phenotypes of CdLS and other cohesinopathies suggest that mutations in the structure and regulation of the cohesin complex during embryogenesis interfere with gene regulation. In a previous project, we showed that RBS was associated with highly fragmented nucleoli and defects in both ribosome biogenesis and protein translation. l-leucine stimulation of the mTOR pathway partially rescued translation in human RBS cells and development in zebrafish models of RBS. In this study, we investigate protein translation in zebrafish models of CdLS. Our results show th

SUBMITTER: Xu B 

PROVIDER: S-EPMC4351377 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature