thiourea and De-Lange-Syndrome

Cornelia de Lange Syndrome (CdLS) encompasses a broad spectrum of phenotypes characterized by distinctive craniofacial abnormalities, limb malformations, growth retardation, and intellectual disability. CdLS spectrum disorders are referred to as cohesinopathies, with ∼70% of patients having a mutation in a gene encoding a core cohesin protein (SMC1A, SMC3, or RAD21) or a cohesin regulatory protein (NIPBL or HDAC8). Notably, the regulatory function of HDAC8 in cohesin biology has only recently been discovered. This Zn

Topics: Acylation; Animals; Catalysis; Cell Cycle Proteins; Chromosomal Proteins, Non-Histone; Cohesins; De Lange Syndrome; Enzyme Stability; Histone Deacetylases; Humans; Mutation; Repressor Proteins; Thiourea