LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
A. V. Busley, O. Gutierrez-Gutierrez, E. Hammer, F. Koitka, A. Mirzaiebadizi, M. Steinegger, C. Pape, L. Boehmer, H. Schroeder, M. Kleinsorge, M. Engler, I. C. Cirstea, L. Gremer, D. Willbold, J. Altmueller, , L. Cyganek
This study identifies a novel LZTR1 variant causing cardiac hypertrophy by altering protein polymerization and ubiquitin ligase function, showing genetic correction can rescue the phenotype.
bioRxiv · Jan 10, 2023Cell Biology