Abstract
Mutation E334Q in γ-cytoskeletal actin causes symptoms diverging from previously described actinopathies with a distinct clinical phenotype. The patients suffer from a mild speech disorder, frontal dysgyria, and severe hypotonia in some cases. Wild–type γ–actin and p.E334Q were produced as actin–thymosin β4–His–tag fusion proteins using the Baculovirus Sf9-insect cell system. Purification via NiNTA-affinity chromatography and digestion with chymotrypsin yielded homogeneous wild–type and mutant actin with N–terminal acetylation and without any additional sequence modifications, as verified by MS/MS analysis.
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