The Baraitser-Winter Cerebrofrontofacial Syndrome recurrent R196H variant in cytoplasmic β-actin impairs its cellular polymerization and stability
Éva Gráczer, Elena Battirossi, Tamás Bozó, Á. Altorjay, Katalin Pászty, Laura Harsányi, Johannes N. Greve, Irene Pertici, Massimo Reconditi, Nataliya Di Donato, Miklós Kellermayer, Pasquale Bianco, Andréa Varga
This study investigates the R196H mutation in β-actin, showing it reduces F-actin content and cell stiffness, weakens actin-membrane attachment, and impairs cofilin interaction.
The FASEB Journal · Jan 5, 2026Peer-reviewedBiophysics