Article
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura.
Journal of nephrology - 1 Oct 2018
Milillo Annamaria, Molinario Clelia, Costanzi Stefano, Vischini Gisella, La Carpia Francesca, La Greca Francesco, Rigante Donato, Gambaro Giovanni, Gurrieri Fiorella, Sangiorgi Eugenio
Abstract excerpt
Studies on IgA nephropathy (IgAN) have identified, through GWAS, linkage analysis, and pathway scanning, molecular defects in familial and sporadic IgAN patients. In our previous study, we identified a novel variant in the SPRY2 gene that segregates with the disease in one large family. The functional characterization of this variant led us to discover that the MAPK/ERK pathway was defective not only in this...
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