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Role of OligoSaccharyl Transferase enzymes in developmental signaling and congenital disorders of glycosylation

Project description

The impact of glycosylation on development

Congenital disorders of glycosylation (CDGs) comprise a large group of rare metabolic diseases that are associated with impaired protein and lipid glycosylation. Most types of CDGs are characterised by impaired glycosylation in the endoplasmic reticulum. The EU-funded OSTers project focuses on the oligosaccharyltransferase (OST) complex responsible for the addition of glycans in the endoplasmic reticulum. With an aim to understand the clinical heterogeneity of CDGs, researchers will investigate the function of the OST complex during development. Results will help decode the impact of OST mutations on physiology and provide important insight into CDGs’ clinical features.

Objective

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 components in animal development are lacking. In this framework, the goal of this proposal is to understand the function of OST complex during animal development, with a focus on their role in the regulation of developmental signaling pathways. The final aim will be to provide insights for deciphering some aspects of patients’ clinical features with OST mutations. This might lead to new frameworks for targeted therapeutic manipulation.

Fields of science (EuroSciVoc)

CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.

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Coordinator

UNIVERSITA DEGLI STUDI DI MILANO
Net EU contribution
€ 183 473,28
Address
Via Festa Del Perdono 7
20122 Milano
Italy

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Region
Nord-Ovest Lombardia Milano
Activity type
Higher or Secondary Education Establishments
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Total cost
€ 183 473,28
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