Sarah Wendlinger

This paper evaluates base editing strategies for treating ADTKD-UMOD by correcting pathogenic UMOD variants and inactivating mutant alleles, showing efficient correction and expression modulation in cell models.

This study shows that kidney-specific deletion of Wdr72 causes incomplete distal renal tubular acidosis by reducing V-ATPase B1 subunit localization and impairing intercalated cell function.

This study shows that CRISPR base editing can correct pathogenic PKD1 variants in mice, reducing liver cysts and increasing polycystin-1 expression.