Article
Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
Human molecular genetics - 1 Oct 2013
Ravenscroft Gianina, McNamara Elyshia, Griffiths Lisa M, Papadimitriou John M, Hardeman Edna C, Bakker Anthony J, Davies Kay E, Laing Nigel G, Nowak Kristen J
Abstract excerpt
More than 200 mutations in the skeletal muscle α-actin gene (ACTA1) cause either dominant or recessive skeletal muscle disease. Currently, there are no specific therapies. Cardiac α-actin is 99% identical to skeletal muscle α-actin and the predominant actin isoform in fetal muscle. We previously showed cardiac α-actin can substitute for skeletal muscle α-actin, preventing the early postnatal death of Acta1...
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