Baraitser-Winter Syndrome Hotspot Mutation R196H in Cytoskeletal β-actin Reduces F-actin Stability and Perturbs Interaction with the Arp2/3 Complex
This paper investigates the effect of the R196H mutation in β-actin on F-actin stability and its interaction with the Arp2/3 complex, linking these changes to BWCFF pathogenesis.
bioRxiv · Mar 20, 2024 · PreprintBiochemistry