Low molecular weight proteinuria caused by a mutation of the Vesicle Associated Protein (VAP) (A07)

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The project deals with a previously unknown autosomal recessive disease, in which a mutation in the gene of the "vesicle-associated protein" (VAP) leads to reduced protein uptake in the proximal tubule and to “low-molecular-weight” proteinuria. The role of VAP in the kidney is unknown and will be investigated with the help of genetically modified mice and cell models. The expected results will contribute to a better understanding of protein resorption in the kidney and provide insights into the pathogenesis and tubular signaling in this unknown disease.