Article
Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.
Human molecular genetics - 1 Nov 2013
Ochala Julien, Iwamoto Hiroyuki, Ravenscroft Gianina, Laing Nigel G, Nowak Kristen J
Abstract excerpt
Multiple congenital myopathies, including nemaline myopathy, can arise due to mutations in the ACTA1 gene encoding skeletal muscle α-actin. The main characteristics of ACTA1 null mutations (absence of skeletal muscle α-actin) are generalized skeletal muscle weakness and premature death. A mouse model (ACTC(Co)/KO) mimicking these conditions has successfully been rescued by transgenic over-expression of cardiac...
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