Article
The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Jan 2026
Gráczer Éva, Battirossi Elena, Bozó Tamás, Altorjay Áron Gellért, Pászty Katalin, Harsányi Laura, Greve Johannes N, Pertici Irene, Reconditi Massimo, Di Donato Nataliya, Kellermayer Miklós, Bianco Pasquale, Varga Andrea
Abstract excerpt
Variants in cytoskeletal actin encoding genes are associated with a broad spectrum of disorders, called non-muscle actinopathies. Among them, the Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) displays the most severe symptoms, such as intellectual disability and epilepsy. We found that the BWCFF-associated R196H mutation results in reduced proliferation and migration of patient-derived fibroblast cells,...
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