Florian Buerger, Lea M Merz, Ken Saida, Seyoung Yu, Daanya Salmanullah, Katharina Lemberg, Nils D Mertens, Bshara Mansour, Caroline M Kolvenbach, Kirollos Yousef, Alina Braun, Gijs A C Franken, Nicole Endlich, Ronen Schneider, Shrilee Shril, Friedhelm Hildebrandt
Steroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podocyte have been assessed as a means for gene replacement therapy...
March 14, 2024: American Journal of Physiology. Renal Physiology