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

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

• natural sciences › biological sciences › genetics and heredity › mutation

Programme(s)

• H2020-EU.1.3.2. - Nurturing excellence by means of cross-border and cross-sector mobility

Topic(s)

• MSCA-IF-2018 - Individual Fellowships

Call for proposal

H2020-MSCA-IF-2018
See other projects for this call

Funding Scheme

MSCA-IF-EF-RI - RI – Reintegration panel

Coordinator

UNIVERSITA DEGLI STUDI DI MILANO

Address

Via Festa Del Perdono 7
20122 Milano
Italy

Activity type

Higher or Secondary Education Establishments

EU contribution

€ 183 473,28