Article
The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins.
eLife - 6 Mar 2024
Greve Johannes N, Marquardt Anja, Heiringhoff Robin, Reindl Theresia, Thiel Claudia, Di Donato Nataliya, Taft Manuel H, Manstein Dietmar J
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...
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