Summary
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.
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| Web resources: | https://cordis.europa.eu/project/id/844147 |
| Start date: | 01-06-2019 |
| End date: | 31-05-2021 |
| Total budget - Public funding: | 183 473,28 Euro - 183 473,00 Euro |
Cordis data
Original description
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.Status
CLOSEDCall topic
MSCA-IF-2018Update Date
28-04-2024
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