BiophysicsThe FASEB JournalPeer-reviewed
The Baraitser-Winter Cerebrofrontofacial Syndrome recurrent R196H variant in cytoplasmic β-actin impairs its cellular polymerization and stability
Éva Gráczer, Elena Battirossi, Tamás Bozó…·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.
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