Collaborative Research Center 1453
NephroGenetics
Kidney disease represents a global public health challenge. Chronic kidney disease alone affects 10-15% of adults and increases the risk for kidney failure, adverse cardiovascular outcomes, and mortality. Despite the high prevalence and the great costs associated with treating kidney diseases, the low number of clinical trials and specific treatments in nephrology attests to a shortage of therapeutic targets. The identification of druggable targets has been hampered by an incomplete understanding of the mechanisms underlying the etiology and progression of kidney diseases. Pharmacological compounds that operate on proteins or pathways connected to a given disease by human genetic evidence are at least twice as likely to gain approval, compared to those without genetic support. Therefore, the long-term vision of the CRC 1453 is to use evidence from genetic kidney diseases to identify, characterize, and modify molecules and pathways that represent targets to improve the prevention and treatment of kidney disease.
Seminars
Publications
Müller M, Zodel K, Abhari BA, Cuomo F, Nizamuddin S, Metzger P, Boerries M, Timmers HTM, Frew IJ. KDM5C and KDM5D mutations have different consequences in clear cell renal cell carcinoma cells. Commun Biol (2025).
Pal J, Riester M, Ganner A, …, Frew IJ, Kotsis F, Neumann-Haefelin E, Spang A, Diederichs S. Nonstop mutations cause loss of renal tumor suppressor proteins VHL and BAP1 and affect multiple stages of protein translation. Sci Adv (2025).
Felixberger PT, Andrieux G, Maul-Pavicic A, …, Boerries M, Nitschke L, Voll RE, Warnatz K, Keller B. CD21low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation. Front Immunol (2025).
Schumann A, Garbade SF, Beblo S, …, Thimm E, Weinhold N, Williams M, Wortmann S, Grünert SC. Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges. Mol Genet Metab (2025).
Braun LM, Giesler S, Andrieux G, …, Boerries M, …, Schell C, …, Becher B, Funke-Lorenz C, Placke JM, Apostolava P, Zeiser R. Adiponectin reduces immune checkpoint inhibitor-induced inflammation without blocking anti-tumor immunity. Cancer Cell (2025).
Li MJ, Meyer LC, Meier N, Wittke J, Maldacker M, Seredynska A, Schueler J, Schilling O, Föll MC. Spatial Proteomics by Parallel Accumulation-Serial Fragmentation Supported MALDI MS/MS Imaging: A First Glance Into Multiplexed and Spatial Peptide Identification. Rapid Commun Mass Spectrom (2025).
Brombacher E, Schilling O, Kreutz C. Characterizing the omics landscape based on 10,000+ datasets. Sci Rep (2025).
Scherer N, Fässler D, Borisov O, Cheng Y, Schlosser P, Wuttke M, …, Sekula P, Hoppmann A, Schultheiss UT, …, Schmidts, Köttgen M, …, Grünert SC, Estrada K, Thiele I, Hertel J, Köttgen A. Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits. Nat Genet (2025).
Catalano A, Haas LS, Zodel K, …, Haug S, Köttgen A, Köhler N, Boerries M, Frew I. Mutations in tumor suppressor genes Vhl and Rassf1a cause DNA damage, chromosomal instability and induce gene expression changes characteristic of clear cell renal cell carcinoma. Kidney Int (2024).
Butz E, Schultheiss UT, Sekula P. Modeling heterogeneity in the progression of chronic kidney disease. Nephrol Dial Transplant (2024).
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