Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

O-GlcNAc transferase (OGT) is an X-linked gene product that is essential for normal development of the vertebrate embryo. It catalyses the O-GlcNAc posttranslational modification of nucleocytoplasmic proteins and proteolytic maturation of the transcriptional coregulator Host cell factor 1 (HCF1). Re...

Full description

Saved in:

Bibliographic Details
Published in:	Proceedings of the National Academy of Sciences - PNAS Vol. 116; no. 30; pp. 14961 - 14970
Main Authors:	Pravat, Veronica M., Muh, Villo, Gundogd, Mehmet, Ferenbac, Andrew T., Kakad, Poonam S., Vandad, Vasudha, Wilme, Ariane C., Borodki, Vladimir S., Jos, Shelagh, Stavridi, Marios P., van Aalten, Daan M. F.
Format:	Journal Article
Language:	English
Published:	United States National Academy of Sciences 23-07-2019
Series:	PNAS Plus
Subjects:	Animals Biological Sciences Catalytic Domain Cell Line Drosophila Female Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Host Cell Factor C1 - metabolism Humans Intellectual Disability - genetics Intellectual Disability - pathology Loss of Function Mutation Mice N-Acetylglucosaminyltransferases - chemistry N-Acetylglucosaminyltransferases - genetics N-Acetylglucosaminyltransferases - metabolism Neurogenesis PNAS Plus Point Mutation Twins, Monozygotic neurodevelopment O-GlcNAc intellectual disability
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!