Faculty Collaboration Database

The O-GlcNAc cycling in neurodevelopment and associated diseases. Biochem Soc Trans 2022 Dec 16;50(6):1693-1702

Date

11/17/2022

Pubmed ID

36383066

Pubmed Central ID

PMC10462390

DOI

10.1042/BST20220539

Scopus ID

2-s2.0-85144232323 (requires institutional sign-in at Scopus site)   4 Citations

Abstract

Proper neuronal development is essential to growth and adult brain function. Alterations at any step of this highly organized sequence of events, due to genetic mutations or environmental factors, triggers brain malformations, which are leading causes of diseases including epilepsy, intellectual disabilities, and many others. The role of glycosylation in neuronal development has been emphasized for many years, notably in studying human congenital disorders of glycosylation (CDGs). These diseases highlight that genetic defects in glycosylation pathways are almost always associated with severe neurological abnormalities, suggesting that glycosylation plays an essential role in early brain development. Congenital disorders of O-GlcNAcylation are no exception, and all mutations of the O-GlcNAc transferase (OGT) are associated with X-linked intellectual disabilities (XLID). In addition, mouse models and in vitro mechanistic studies have reinforced the essential role of O-GlcNAcylation in neuronal development and signaling. In this review, we give an overview of the role of O-GlcNAcylation in this critical physiological process and emphasize the consequences of its dysregulation.

Author List

Wenzel DM, Olivier-Van Stichelen S

Author

Stephanie Olivier-Van Stichelen PhD Assistant Professor in the Biochemistry department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Acetylglucosamine
Animals
Glycosylation
Humans
Intellectual Disability
Mice
Mutation
N-Acetylglucosaminyltransferases
Protein Processing, Post-Translational
Signal Transduction