Max C. Liebau

The paper uses structural modeling to show that fibrocystin destabilization due to PKHD1 missense mutations is a key pathogenic mechanism in ARPKD, suggesting stabilization as a therapeutic target.

This study shows that the fibrocystin C-terminal domain suppresses Src/STAT3 signaling, preventing cyst formation in kidney epithelial cells by inhibiting secretory phenotype and STAT3-dependent transcription.

This paper shows that GLIS2 is essential for the DNA damage response in kidney cells, leading to DNA damage and cystic kidney disease in a mouse model.

This study shows that loss of Bbs8 in mice causes cystic kidney disease by reducing ciliary alpha-tubulin acetylation through increased HDAC2 activity.

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.

The paper develops a method to analyze individual nephron proteomes in kidney disease, identifying lysosomal protein overexpression as a key mechanism in proteinuric diseases.