Article
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Genes & development - 1 Mar 2018
Ferrer Christina M, Alders Marielle, Postma Alex V, Park Seonmi, Klein Mark A, Cetinbas Murat, Pajkrt Eva, Glas Astrid, van Koningsbruggen Silvana, Christoffels Vincent M, Mannens Marcel M A M, Knegt Lia, Etchegaray Jean-Pierre, Sadreyev Ruslan I, Denu John M, Mostoslavsky Gustavo, van Maarle Merel C, Mostoslavsky Raul
Abstract excerpt
It has been well established that histone and DNA modifications are critical to maintaining the equilibrium between pluripotency and differentiation during early embryogenesis. Mutations in key regulators of DNA methylation have shown that the balance between gene regulation and function is critical during neural development in early years of life. However, there have been no identified cases linking epigenetic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.