Cell BiologybioRxiv
LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
A. V. Busley, O. Gutierrez-Gutierrez, E. Hammer…·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.
DOI 10.1016/j.celrep.2024.114448