Article

The Baraitser-Winter Cerebrofrontofacial Syndrome recurrent R196H variant in cytoplasmic β-actin impairs its cellular polymerization and stability

2025-09-17

Abstract excerpt

<h4>ABSTRACT</h4> Variants in cytoskeletal actin encoding genes are associated with a broad spectrum of disorders, called non-muscle actinopathies. Among them, Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) displays the most severe symptoms, such as intellectual disability and epilepsy. The exact consequences of the mutation on actin’s properties, however, are not fully understood. Here we explored the cel...

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Literature Corpus work: 64ed5145-ef87-578d-92e9-a36fd08428d7
DOI: 10.1101/2025.09.12.675785

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