Associated Papers
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
Comparison of incorporation of wild type and mutated actins into sarcomeres in skeletal muscle cells: A fluorescence recovery after photobleaching study.
Wang J et al.
Cytoskeleton (hoboken, N.j.), 2022
Actin Mutations and Their Role in Disease.
Parker F et al.
International Journal of Molecular Sciences, 2020
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle.
Sevdali M et al.
Neuromuscular Disorders : Nmd, 2013
Myopathy-causing actin mutations promote defects in serum-response factor signalling.
Visegrády B et al.
The Biochemical Journal, 2010
alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells.
Vandamme D et al.
Biochimica Et Biophysica Acta, 2009
Actinopathies and myosinopathies.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2009
alpha-Skeletal muscle actin mutants causing different congenital myopathies induce similar cytoskeletal defects in cell line cultures.
Vandamme D et al.
Cell Motility and the Cytoskeleton, 2009
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ et al.
Neuromuscular Disorders : Nmd, 2009
Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.
Bathe FS et al.
Bmc Cell Biology, 2007
Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy.
Goebel HH et al.
Journal of Child Neurology, 2006
Mutation in ROBO3 gene recently documented in patients with horizontal gaze palsy with progressive scoliosis.
MacDonald JT
Journal of Child Neurology, 2006
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).
Schröder JM et al.
Acta Neuropathologica, 2004
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Wallgren-Pettersson C et al.
Neuromuscular Disorders : Nmd, 2004
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.
Costa CF et al.
Journal of Cell Science, 2004
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC et al.
Neuromuscular Disorders : Nmd, 2003
Production of human skeletal alpha-actin proteins by the baculovirus expression system.
Anthony Akkari P et al.
Biochemical and Biophysical Research Communications, 2003
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak KJ et al.
Nature Genetics, 1999