Silvia Radenkovic

This study identifies shared molecular signatures and potential therapeutic targets across multiple Congenital Disorders of Glycosylation using multi-omics integration and drug prediction.

This study uses cortical organoids to show that ALG13 loss-of-function causes glycosylation defects, neuronal maturation issues, and network hypoactivity in CDG.

This paper investigates the role of PGM1 in cardiomyocytes using patient-derived stem cells, finding disruptions in sarcomere and mitochondrial function, and suggesting potential therapeutic targets.

This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.