Article

The non–muscle actinopathy–associated mutation E334Q in cytoskeletal γ– actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins

2023-09-10

Abstract excerpt

Various heterozygous cytoskeletal γ–actin mutations have been shown to cause Baraitser–Winter cerebrofrontofacial syndrome, non–syndromic hearing loss, or isolated eye coloboma. Here, we report the biochemical characterization of human cytoskeletal γ–actin carrying mutation E334Q, a mutation that leads to a hitherto unspecified non–muscle actinopathy. Following expression, purification, and removal of linker and t...

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Literature Corpus work: baf0e633-1f9c-5408-afa6-9dffd490e41d
DOI: 10.1101/2023.09.10.557040

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