Michael M. Kaminski

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.

This study improves CRISPR-Cas12a knock-in efficiency in human T cells by using single-stranded DNA templates with double-stranded Cas-target-sequences, achieving up to 90% knock-in rates for transgene inserts.

The paper identifies OCT4 trajectories critical for reprogramming human fibroblasts to iPSCs and develops a synthetic genetic circuit to enforce these trajectories, improving reprogramming efficiency.