From rare to common - investigating universal mechanisms of renal degeneration exemplified by defective MAPKBP1

Institution: Universitätsklinikum Leipzig, Endokrinologie und Nephrologie
Hauptantragsteller: Dr. rer. nat. Ria Schönauer
EKFS-Förderlinie: Erstantragstellung
Centrosomal and ciliary localization of GFP-MAPKBP1

The project is based on the investigation the poorly characterized multi-domain ciliopathy-protein MAPKBP1 (JNK-binding protein 1), which is located at ciliary basal bodies and centrosomes. Patients with mutations in this gene exhibit severe renal fibrosis and mild skelettal malformations. The overall aim of this project is to analyse the intracellular localization of MAPKBP1, to identify its interactome and explore its physiological roles in cellular signalling during the cell cycle.

Based on this information, identification of potential novel inflammation and fibrosis-related genes in patients with unresolved end-stage renal disease due to chronic tubulointerstitial nephritis could open new avenues to detect promising targets for pharmaceutical intervention in both, rare (NPH) and common forms of chronic tubulointerstitial nephritis.

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