Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

Summary: Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles of HDAC4, a founding member of the class IIa deace...

Full description

Bibliographic Details
Main Authors: Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L. Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, Andrea K. Hanson-Kahn, Mary Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard C. Caswell
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:HGG Advances
Subjects:
Histone deacetylase 4
intellectual disability
gain-of-function
14-3-3 binding
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247720300154

Internet

http://www.sciencedirect.com/science/article/pii/S2666247720300154

Similar Items