Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders.

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly disorder resulting from mutations in genes that encode the core components of the cohesin complex, SMC1A, SMC3, and RAD21, or two of its regulatory proteins, NIPBL and HDAC8. HDAC8 is the human SMC3 lysine deacetylase required for cohesin recycling in the cell cycle. To date, 16 different missense mutations in HDAC8 have recently been identified...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Benzamides
• Share to Catalysis