Cardiac  -actin over-expression therapy in dominant ACTA1 disease

Lysine-specific demethylase 1 is a therapeutic target for fetal hemoglobin induction

(2013) Lihong Shi et al.   NATURE MEDICINE

Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle

(2013) Maria Sevdali et al.   NEUROMUSCULAR DISORDERS

Consensus Statement on Standard of Care for Congenital Myopathies

(2012) Ching H. Wang et al.   JOURNAL OF CHILD NEUROLOGY

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy

(2011) Mai-Anh T. Nguyen et al.   BRAIN

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

(2011) Gianina Ravenscroft et al.   BRAIN

Daily Treatment with SMTC1100, a Novel Small Molecule Utrophin Upregulator, Dramatically Reduces the Dystrophic Symptoms in the mdx Mouse

(2011) Jonathon M. Tinsley et al.   PLoS One

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1

(2010) Ryan M. Hung et al.   NEUROMUSCULAR DISORDERS

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

(2010) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

(2009) Nigel G. Laing et al.   HUMAN MUTATION

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

(2009) Kristen J. Nowak et al.   JOURNAL OF CELL BIOLOGY

Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – Quantification of striated α-actins by MRM-mass spectrometry

(2008) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS