Litcius/Paper detail

Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice

Amar J. Majmundar, Florian Buerger, Thomas 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

2021Science Advances32 citationsDOIOpen Access PDF

Abstract

variants impair CDC42/DIAPH-dependent actin remodeling, cause aberrant organoid glomerulogenesis, and lead to a glomerulopathy in humans and mice.

Topics & Concepts

ActinPodocyteBiologyKidney GlomerulusGlomerulopathyCell biologyKidneyNeuroscienceGeneticsGlomerulonephritisProteinuriaRenal Diseases and GlomerulopathiesRenal and related cancersChronic Kidney Disease and Diabetes