Freeze Lab

Sanford Burnham Prebys Medical Discovery Institute

La Jolla · United States

NIH-funded
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NIH R01 · 2025

New Congenital Disorders of Glycosylation: Therapy and Models

PROJECT SUMMARY AIM1 studies how a therapeutic sugar is mobilized for glycosylation. Sugars taken up from outside the cell are handled differently than those produced inside the cell. We found that activated fucose (GDP-Fuc) exists in multiple cytoplasmic pools that differentially contribute to glycosylation., There is no homogenous, feely mixing pool of sugars. This segregation requires a previously unimagined level of cellular organization to distinguish fucose from different origins. We measured simultaneous contributions of the de novo, exogenous, and recycled (salvaged) fucose into multiple glycoproteins. Their contributions varied based on the fucose origin, glycoprotein acceptor,…

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