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Article

Functional Characterization of Cardiac Actin Mutants Causing Hypertrophic (p.A295S) and Dilated Cardiomyopathy (p.R312H and p.E361G).

International journal of molecular sciences - 18 Apr 2022

Hassoun Roua, Erdmann Constanze, Schmitt Sebastian, Fujita-Becker Setsuko, Mügge Andreas, Schröder Rasmus R, Geyer Matthias, Borbor Mina, Jaquet Kornelia, Hamdani Nazha, Mannherz Hans Georg

Abstract excerpt

Human wild type (wt) cardiac α-actin and its mutants p.A295S or p.R312H and p.E361G correlated with hypertrophic or dilated cardiomyopathy, respectively, were expressed by using the baculovirus/Sf21 insect cell system. The c-actin variants inhibited DNase I, indicating maintenance of their native state. Electron microscopy showed the formation of normal appearing actin filaments though they showed mutant specific...

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Identifiers

PMID: 35457283
DOI: 10.3390/ijms23084465
PMCID: PMC9024677

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