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Recessive variants impair actin remodeling and cause glomerulopathy in humans and mice

Sci Adv. 2021-01; 
Amar J Majmundar, Florian Buerger, Thomas A Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch, Thomas M Kitzler, Sara E Howden, Michelle Scurr, Ker Sin Tan, Mickaël Krzeminski, Eugen Widmeier, Daniela A Braun, Ethan Lai, Ihsan Ullah, Ali Amar, Amy Kolb, Kaitlyn Eddy, Chin Heng Chen, Daanya Salmanullah, Rufeng Dai, Makiko Nakayama, Isabel Ottlewski, Caroline M Kolvenbach, Ana C Onuchic-Whitford, Youying Mao, Nina Mann, Marwa M Nabhan, Seymour Rosen, Julie D Forman-Kay, Neveen A Soliman, Andreas Heilos, Renate Kain, Christoph Aufricht, Shrikant Mane, Richard P Lifton, Shirlee Shril, Melissa H Little, Friedhelm Hildebrandt
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摘要

Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive variants in two families with early-onset NS by exome sequencing. Overexpression of wild-type (WT) , but not cDNA constructs bearing patient variants, increased active CDC42 and promoted filopodia and podosome formation. Pharmacologic inhibition of CDC42 or its effectors, formin proteins, reduced NOS1AP-induced filopodia formation. knockdown reduced podocyte migration rate (PMR), which was rescued by overexpression of WT but not by constructs bearing patient variants. PMR in knockdown podocytes was also rescued by constitutively active or the formin Modeling a patient variant in knock-in human kidney organoids reveal... More

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