NIH R01 · 2024
Pathogenic Mechanisms of Congenital Disorders of Glycosylation
The Congenital Disorders of Glycosylation (CDG) are a growing group of rare inherited diseases caused by mutations in genes involved in protein and lipid glycosylation. Our understanding of the mechanisms driving CDG pathogenesis remains limited, greatly impeding development of new therapies. To overcome this barrier, our group developed and characterized a zebrafish model for the most common CDG, PMM2-CDG. PMM2- CDG results from mutations in phosphomannomutase 2 (PMM2), which encodes an enzyme that converts mannose-6-phosphate (M6P) to mannose-1-phosphate (M1P). Defects in PMM2 limit production of lipid-linked N-glycosylation precursors, impairing protein glycosylation and causing numerous…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.