- Effect of the top GWAS variants on megalin and cubilin expression and function;
- Defining the role of receptor-mediated endocytosis in PT dysfunction;
- Elucidating mechanisms linking megalin - cubilin with the risk of CKD;
- Validation of pathways and biomarkers studies in prospective human cohorts.
Scientific risks and solutions:
These investigations are based on populations studies (e.g. CKDGen), cell systems and mouse lines already used in the hosting Lab, and on a set of robust preliminary data. The group has specific assays and biomarkers to assess receptor-mediated endocytosis. We have access to a large biobank of human material (general population cohorts, CKD cohorts, kidney biopsies from patients with various disorders linked to receptor-mediated endocytosis).