Author

R. Schönauer

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#gene editing Oct 2026

Base Editing as a Therapeutic Strategy for Autosomal Dominant Tubulointerstitial Kidney Disease caused by Pathogenic UMOD Variants

Autosomal dominant tubulointerstitial kidney disease caused by pathogenic UMOD variants (ADTKD-UMOD) is an untreatable monogenic kidney disease in which misfolded uromodulin is retained in the endoplasmic reticulum and exerts a toxic gain-of-function effect. Here we systematically evaluate the full spectrum of base edi...

Nora Diederich, Sarah Wendlinger, Shu-Han Kong et al. · bioRxiv · 0 citations

Open access Jul 2026

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific

While patients with Lamin A/C Arg482 missense changes are at very low risk for progressive CKD, patients harboring Arg349Trp show nephrotic range proteinuria and kidney failure in midlife, and patients with the Arg349Trp substitution require early renoprotective intervention to potentially halt progression and prevent...

Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed et al. · JCI Insight · 0 citations