The O-GlcNAc cycling in neurodevelopment and associated diseases. Biochem Soc Trans 2022 Dec 16;50(6):1693-1702
Date
11/17/2022Pubmed ID
36383066DOI
10.1042/BST20220539Scopus ID
2-s2.0-85144232323 (requires institutional sign-in at Scopus site)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 SAuthor
Stephanie Olivier-Van Stichelen PhD Assistant Professor in the Biochemistry department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AcetylglucosamineAnimals
Glycosylation
Humans
Intellectual Disability
Mice
Mutation
N-Acetylglucosaminyltransferases
Protein Processing, Post-Translational
Signal Transduction
