Missense Mutant Gain-of-Function Causes Inverted Formin 2 (INF2)-Related Focal Segmental Glomerulosclerosis (FSGS)
Balajikarthick Subramanian, Sarah Williams, Sophie Karp, Marie-Flore Hennino, Sonako Jacas, Miriam Lee, Cristian V. Riella, Seth L. Alper, Henry N. Higgs, Martin R. Pollak
This study shows that a gain-of-function INF2 mutation causes FSGS in mice, linking INF2's cellular roles to disease progression and explaining its autosomal dominant inheritance.
bioRxiv · Jun 8, 2024 · PreprintGenetics