Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
Hua SunChandra Perez-GillJohannes S SchlöndorffBalajikarthick SubramanianMartin R PollakPublished in: Journal of the American Society of Nephrology : JASN (2020)
INF2 mutations enhance dynein-mediated trafficking of nephrin to proteolytic pathways, diminishing its recycling required for maintaining slit diaphragm integrity. The recognition that dysregulated dynein-mediated transport of nephrin in R218Q knockin podocytes opens an avenue for developing targeted therapy for INF2-mediated FSGS.