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

Investigation of changes in skeletal muscle α-actin expression in normal and pathological human and mouse hearts

(2010) O’Neal Copeland et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene

(2010) Sarah E. Haigh et al.   NEUROMUSCULAR DISORDERS

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

Myofibrillar Myopathies: A Clinical and Myopathological Guide

(2009) Rolf Schröder et al.   BRAIN PATHOLOGY

Context-dependent functional substitution of α-skeletal actin by γ-cytoplasmic actin

(2009) Michele A. Jaeger et al.   FASEB JOURNAL

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

G.P.12.08 Zebra body myopathy resolved

(2009) C.A. Sewry et al.   NEUROMUSCULAR DISORDERS

Slow myosin heavy chain expression in the absence of muscle activity

(2008) O. Agbulut et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Congenital myopathies

(2008) Caroline A Sewry et al.   CURRENT OPINION IN NEUROLOGY

Construction and analysis of compact muscle-specific promoters for AAV vectors

(2008) B Wang et al.   GENE THERAPY

Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin

(2008) Glen B. Banks et al.   HUMAN MOLECULAR GENETICS

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