CORDIS Project
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This project investigates congenital disorders of glycosylation, focusing on the role of a protein complex in animal development. By understanding how genetic mutations affect development, the research aims to provide insights for potential therapies.
Congenital disorders of glycosylation (CDGs) are genetic defects affecting the assembly and addition of asparagine (N)-glycans to proteins. N-glycosylation occurs in the endoplasmic reticulum by the Oligosaccharyl transferase (OST) complex.
Mutations in components of OST complex are identified in CDG patients with broad clinical features.
However, the mechanisms by which OST mutations cause phenotypic heterogeneity are not known.
Moreover, in vivo studies on the precise role of individual OST co…
UNIVERSITA DEGLI STUDI DI MILANO
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