NIH R01 · 2025
Neurological pathophysiology of disrupted O-glycosylation in congenital disorders of glycosylation
PROJECT SUMMARY/ABSTRACT Glycosylation is an essential, post-translational modification with complex and poorly understood roles in protein function. My lab’s long-term objective is to elucidate the neurobiological functions of glycosylation, including identifying the roles of critical glycosylation sites in neuronal protein function. The importance of glycosylation is emphasized by the congenital disorders of glycosylation (CDG), a group of genetic disorders that disrupt cellular glycosylation machinery. Affected patients exhibit severe neurological deficits, including epilepsy and developmental delay. The genetic basis of CDG provides an opportunity to identify the neurobiological…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.